Classification
Category 2
frameshift
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: SALL1
synonym(s): HSAL1, Sal-1, TBS, ZNF794, SALL1, ENSG00000103449
NM_001127892.1
[CDS]
hgvs_c: NM_001127892.1:c.2421_2424del
reference AA: SV
variant AA: X
reference codon: tcAGTG
variant codon: tc
cDNA pos: 2853
CDS pos: 2421
translation impact: frameshift
protein sequence:
NP_001121364.1
AA pos: 807
hgvs_p: NP_001121364.1:p.Gly809ValfsTer59
blosum: 0
NM_002968.2
[CDS]
Reportable
hgvs_c: NM_002968.2:c.2712_2715del
reference AA: SV
variant AA: X
reference codon: tcAGTG
variant codon: tc
cDNA pos: 2743
CDS pos: 2712
translation impact: frameshift
protein sequence:
NP_002959.2
AA pos: 904
hgvs_p: NP_002959.2:p.Gly906ValfsTer59
blosum: 0
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