Canonical Allele Identifier: CA2529794729
Gene: SALL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51139025_51139026insAC , CM000678.2:g.51139025_51139026insAC GRCh38
NC_000016.9:g.51172936_51172937insAC , CM000678.1:g.51172936_51172937insAC GRCh37
NC_000016.8:g.49730437_49730438insAC NCBI36
NG_007990.1:g.17247_17248insGT , LRG_674:g.17247_17248insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000440970.6:c.3196_3197insGT ENSP00000407914.2:p.Asn1066SerfsTer11
ENST00000570206.2:c.2905_2906insGT ENSP00000456777.2:p.Asn969SerfsTer11
ENST00000685868.1:c.3196_3197insGT ENSP00000509873.1:p.Asn1066SerfsTer11
ENST00000690502.1:c.3196_3197insGT ENSP00000510560.1:p.Asn1066SerfsTer11
ENST00000251020.9:c.3196_3197insGT MANE Select ENSP00000251020.4:p.Asn1066SerfsTer11
ENST00000251020.8:c.3196_3197insGT ENSP00000251020.4:p.Asn1066SerfsTer11
ENST00000440970.5:c.2905_2906insGT ENSP00000407914.1:p.Asn969SerfsTer11
ENST00000566102.1:c.77-1474_77-1473insGT ENSP00000455582.1:n.77-1474_77-1473insGT
ENST00000570206.1:c.2905_2906insGT ENSP00000456777.1:p.Asn969SerfsTer11
NM_001127892.1:c.2905_2906insGT NP_001121364.1:p.Asn969SerfsTer11
NM_002968.2:c.3196_3197insGT , LRG_674t1:c.3196_3197insGT NP_002959.2:p.Asn1066SerfsTer11
XM_006721241.2:c.3196_3197insGT XP_006721304.1:p.Asn1066SerfsTer11
XM_011523254.1:c.3196_3197insGT XP_011521556.1:p.Asn1066SerfsTer11
XM_011523255.1:c.3196_3197insGT XP_011521557.1:p.Asn1066SerfsTer11
NM_002968.3:c.3196_3197insGT MANE Select NP_002959.2:p.Asn1066SerfsTer11
NM_001127892.2:c.2905_2906insGT NP_001121364.1:p.Asn969SerfsTer11