Canonical Allele Identifier: CA259234

Gene: SMAD4

Linked Data

• dbSNP Id: rs377767359
• MyVariant Identifiers: chr18:g.48593517del (hg19) ; chr18:g.51067147del (hg38)
• PubMed: PMID:16152648

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067147del , CM000680.2:g.51067147del	GRCh38
NC_000018.9:g.48593517del , CM000680.1:g.48593517del	GRCh37
NC_000018.8:g.46847515del	NCBI36
NG_013013.2:g.104108del , LRG_318:g.104108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1268del	ENSP00000465878.2:p.Gly423GlufsTer13
ENST00000589076.6:c.1268del	ENSP00000466934.2:p.Gly423GlufsTer13
ENST00000589941.2:c.1268del	ENSP00000465874.2:p.Gly423GlufsTer13
ENST00000590061.2:c.1268del	ENSP00000464772.2:p.Gly423GlufsTer13
ENST00000593223.2:c.1268del	ENSP00000466118.2:p.Gly423GlufsTer13
ENST00000611848.2:c.1268del	ENSP00000478613.2:p.Gly423GlufsTer13
ENST00000684953.1:n.2640del
ENST00000685090.1:n.1719del
ENST00000685232.1:n.1376del
ENST00000688574.1:n.1376del
ENST00000691124.1:n.2750del
ENST00000342988.8:c.1268del MANE Select	ENSP00000341551.3:p.Gly423GlufsTer13
ENST00000342988.7:c.1268del	ENSP00000341551.3:p.Gly423GlufsTer13
ENST00000398417.6:c.1268del	ENSP00000381452.1:p.Gly423GlufsTer13
ENST00000588745.5:c.980del	ENSP00000464901.1:p.Gly327GlufsTer13
ENST00000590499.1:n.326del
ENST00000591126.5:n.3269del
ENST00000592186.5:c.955+7231del	ENSP00000468611.1:n.955+7231del
ENST00000593223.1:c.35del	ENSP00000466118.1:p.Gly12GlufsTer13
ENST00000611848.1:c.468del
NM_005359.5:c.1268del , LRG_318t1:c.1268del	NP_005350.1:p.Gly423GlufsTer13
NM_005359.6:c.1268del MANE Select	NP_005350.1:p.Gly423GlufsTer13