Canonical Allele Identifier: CA645592655
Community Standard Title: NM_002968.3(SALL1):c.2409dup (p.Glu804Ter)
Gene: SALL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51139813dup , CM000678.2:g.51139813dup GRCh38
NC_000016.9:g.51173724dup , CM000678.1:g.51173724dup GRCh37
NC_000016.8:g.49731225dup NCBI36
NG_007990.1:g.16460dup , LRG_674:g.16460dup

Transcript Alleles

HGVS Amino-acid Change
NM_002968.3:c.2409dup MANE Select NP_002959.2:p.Glu804Ter
ENST00000251020.9:c.2409dup MANE Select ENSP00000251020.4:p.Glu804Ter
NM_001127892.1:c.2118dup NP_001121364.1:p.Glu707Ter
NM_001127892.2:c.2118dup NP_001121364.1:p.Glu707Ter
NM_002968.2:c.2409dup , LRG_674t1:c.2409dup NP_002959.2:p.Glu804Ter
ENST00000251020.8:c.2409dup ENSP00000251020.4:p.Glu804Ter
ENST00000440970.5:c.2118dup ENSP00000407914.1:p.Glu707Ter
ENST00000440970.6:c.2409dup ENSP00000407914.2:p.Glu804Ter
ENST00000566102.1:c.77-2261dup ENSP00000455582.1:n.77-2261dup
ENST00000570206.1:c.2118dup ENSP00000456777.1:p.Glu707Ter
ENST00000570206.2:c.2118dup ENSP00000456777.2:p.Glu707Ter
ENST00000685868.1:c.2409dup ENSP00000509873.1:p.Glu804Ter
ENST00000690502.1:c.2409dup ENSP00000510560.1:p.Glu804Ter
XM_006721241.2:c.2409dup XP_006721304.1:p.Glu804Ter
XM_011523254.1:c.2409dup XP_011521556.1:p.Glu804Ter
XM_011523255.1:c.2409dup XP_011521557.1:p.Glu804Ter