Canonical Allele Identifier: CA645592649
Gene: SALL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51139413_51139414delinsAA , CM000678.2:g.51139413_51139414delinsAA GRCh38
NC_000016.9:g.51173324_51173325delinsAA , CM000678.1:g.51173324_51173325delinsAA GRCh37
NC_000016.8:g.49730825_49730826delinsAA NCBI36
NG_007990.1:g.16859_16860delinsTT , LRG_674:g.16859_16860delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000440970.6:c.2808_2809delinsTT ENSP00000407914.2:p.Gln936HisfsTer2
ENST00000570206.2:c.2517_2518delinsTT ENSP00000456777.2:p.Gln839HisfsTer2
ENST00000685868.1:c.2808_2809delinsTT ENSP00000509873.1:p.Gln936HisfsTer2
ENST00000690502.1:c.2808_2809delinsTT ENSP00000510560.1:p.Gln936HisfsTer2
ENST00000251020.9:c.2808_2809delinsTT MANE Select ENSP00000251020.4:p.Gln936HisfsTer2
ENST00000251020.8:c.2808_2809delinsTT ENSP00000251020.4:p.Gln936HisfsTer2
ENST00000440970.5:c.2517_2518delinsTT ENSP00000407914.1:p.Gln839HisfsTer2
ENST00000566102.1:c.77-1862_77-1861delinsTT ENSP00000455582.1:n.77-1862_77-1861delinsTT
ENST00000570206.1:c.2517_2518delinsTT ENSP00000456777.1:p.Gln839HisfsTer2
NM_001127892.1:c.2517_2518delinsTT NP_001121364.1:p.Gln839HisfsTer2
NM_002968.2:c.2808_2809delinsTT , LRG_674t1:c.2808_2809delinsTT NP_002959.2:p.Gln936HisfsTer2
XM_006721241.2:c.2808_2809delinsTT XP_006721304.1:p.Gln936HisfsTer2
XM_011523254.1:c.2808_2809delinsTT XP_011521556.1:p.Gln936HisfsTer2
XM_011523255.1:c.2808_2809delinsTT XP_011521557.1:p.Gln936HisfsTer2
NM_002968.3:c.2808_2809delinsTT MANE Select NP_002959.2:p.Gln936HisfsTer2
NM_001127892.2:c.2517_2518delinsTT NP_001121364.1:p.Gln839HisfsTer2