Canonical Allele Identifier: CA259232
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 142253
dbSNP Id: rs80338965

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067124_51067127del , CM000680.2:g.51067124_51067127del GRCh38
NC_000018.9:g.48593494_48593497del , CM000680.1:g.48593494_48593497del GRCh37
NC_000018.8:g.46847492_46847495del NCBI36
NG_013013.2:g.104085_104088del , LRG_318:g.104085_104088del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1245_1248del ENSP00000465878.2:p.Asp415GlufsTer20
ENST00000589076.6:c.1245_1248del ENSP00000466934.2:p.Asp415GlufsTer20
ENST00000589941.2:c.1245_1248del ENSP00000465874.2:p.Asp415GlufsTer20
ENST00000590061.2:c.1245_1248del ENSP00000464772.2:p.Asp415GlufsTer20
ENST00000593223.2:c.1245_1248del ENSP00000466118.2:p.Asp415GlufsTer20
ENST00000611848.2:c.1245_1248del ENSP00000478613.2:p.Asp415GlufsTer20
ENST00000684953.1:n.2617_2620del
ENST00000685090.1:n.1696_1699del
ENST00000685232.1:n.1353_1356del
ENST00000688574.1:n.1353_1356del
ENST00000691124.1:n.2727_2730del
ENST00000342988.8:c.1245_1248del MANE Select ENSP00000341551.3:p.Asp415GlufsTer20
ENST00000342988.7:c.1245_1248del ENSP00000341551.3:p.Asp415GlufsTer20
ENST00000398417.6:c.1245_1248del ENSP00000381452.1:p.Asp415GlufsTer20
ENST00000588745.5:c.957_960del ENSP00000464901.1:p.Asp319GlufsTer20
ENST00000590499.1:n.303_306del
ENST00000591126.5:n.3246_3249del
ENST00000592186.5:c.955+7208_955+7211del ENSP00000468611.1:n.955+7208_955+7211del
ENST00000593223.1:c.12_15del ENSP00000466118.1:p.Asp4GlufsTer20
ENST00000611848.1:c.445_448del
NM_005359.5:c.1245_1248del , LRG_318t1:c.1245_1248del NP_005350.1:p.Asp415GlufsTer20
NM_005359.6:c.1245_1248del MANE Select NP_005350.1:p.Asp415GlufsTer20