Canonical Allele Identifier: CA645294090
Gene: SALL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426114
ClinVar RCV Id: RCV000489064
dbSNP Id: rs1085307143

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51141113_51141114del , CM000678.2:g.51141113_51141114del GRCh38
NC_000016.9:g.51175024_51175025del , CM000678.1:g.51175024_51175025del GRCh37
NC_000016.8:g.49732525_49732526del NCBI36
NG_007990.1:g.15159_15160del , LRG_674:g.15159_15160del

Transcript Alleles

HGVS Amino-acid change
ENST00000440970.6:c.1108_1109del ENSP00000407914.2:p.Val370LeufsTer19
ENST00000570206.2:c.817_818del ENSP00000456777.2:p.Val273LeufsTer19
ENST00000685868.1:c.1108_1109del ENSP00000509873.1:p.Val370LeufsTer19
ENST00000690502.1:c.1108_1109del ENSP00000510560.1:p.Val370LeufsTer19
ENST00000251020.9:c.1108_1109del MANE Select ENSP00000251020.4:p.Val370LeufsTer19
ENST00000251020.8:c.1108_1109del ENSP00000251020.4:p.Val370LeufsTer19
ENST00000440970.5:c.817_818del ENSP00000407914.1:p.Val273LeufsTer19
ENST00000566102.1:c.77-3562_77-3561del ENSP00000455582.1:n.77-3562_77-3561del
ENST00000570206.1:c.817_818del ENSP00000456777.1:p.Val273LeufsTer19
NM_001127892.1:c.817_818del NP_001121364.1:p.Val273LeufsTer19
NM_002968.2:c.1108_1109del , LRG_674t1:c.1108_1109del NP_002959.2:p.Val370LeufsTer19
XM_006721241.2:c.1108_1109del XP_006721304.1:p.Val370LeufsTer19
XM_011523254.1:c.1108_1109del XP_011521556.1:p.Val370LeufsTer19
XM_011523255.1:c.1108_1109del XP_011521557.1:p.Val370LeufsTer19
NM_002968.3:c.1108_1109del MANE Select NP_002959.2:p.Val370LeufsTer19
NM_001127892.2:c.817_818del NP_001121364.1:p.Val273LeufsTer19