Canonical Allele Identifier: CA2567641251
Gene: SALL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51139370dup , CM000678.2:g.51139370dup GRCh38
NC_000016.9:g.51173281dup , CM000678.1:g.51173281dup GRCh37
NC_000016.8:g.49730782dup NCBI36
NG_007990.1:g.16903dup , LRG_674:g.16903dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000440970.6:c.2852dup ENSP00000407914.2:p.Val952GlyfsTer24
ENST00000570206.2:c.2561dup ENSP00000456777.2:p.Val855GlyfsTer24
ENST00000685868.1:c.2852dup ENSP00000509873.1:p.Val952GlyfsTer24
ENST00000690502.1:c.2852dup ENSP00000510560.1:p.Val952GlyfsTer24
ENST00000251020.9:c.2852dup MANE Select ENSP00000251020.4:p.Val952GlyfsTer24
ENST00000251020.8:c.2852dup ENSP00000251020.4:p.Val952GlyfsTer24
ENST00000440970.5:c.2561dup ENSP00000407914.1:p.Val855GlyfsTer24
ENST00000566102.1:c.77-1818dup ENSP00000455582.1:n.77-1818dup
ENST00000570206.1:c.2561dup ENSP00000456777.1:p.Val855GlyfsTer24
NM_001127892.1:c.2561dup NP_001121364.1:p.Val855GlyfsTer24
NM_002968.2:c.2852dup , LRG_674t1:c.2852dup NP_002959.2:p.Val952GlyfsTer24
XM_006721241.2:c.2852dup XP_006721304.1:p.Val952GlyfsTer24
XM_011523254.1:c.2852dup XP_011521556.1:p.Val952GlyfsTer24
XM_011523255.1:c.2852dup XP_011521557.1:p.Val952GlyfsTer24
NM_002968.3:c.2852dup MANE Select NP_002959.2:p.Val952GlyfsTer24
NM_001127892.2:c.2561dup NP_001121364.1:p.Val855GlyfsTer24