Canonical Allele Identifier: CA259232

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 142253
• ClinVar RCV Id: RCV000131266 ; RCV000205495 ; RCV000254690 ; RCV000768095 ; RCV002311019 ; RCV003227672 ; RCV001357425 ; RCV001376606 ; RCV003485541
• dbSNP Id: rs80338965
• gnomAD v4: 18-51067120-TAGAC-T
• COSMIC: COSM1266191
• MyVariant Identifiers: chr18:g.48593494_48593497del (hg19) ; chr18:g.48593494_48593497delCAGA (hg19) ; chr18:g.51067124_51067127del (hg38)
• PubMed: PMID:9582123 ; PMID:15235019 ; PMID:17873119 ; PMID:20101697 ; PMID:20301642 ; PMID:22316667 ; PMID:23239472 ; PMID:23399955

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