Canonical Allele Identifier: CA503874292

Gene: SMAD4

Linked Data

• COSMIC: COSM218560
• MyVariant Identifiers: chr18:g.48593542del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067173del , CM000680.2:g.51067173del	GRCh38
NC_000018.9:g.48593543del , CM000680.1:g.48593543del	GRCh37
NC_000018.8:g.46847541del	NCBI36
NG_013013.2:g.104134del , LRG_318:g.104134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1294del	ENSP00000465878.2:p.Ser432ValfsTer4
ENST00000589076.6:c.1294del	ENSP00000466934.2:p.Ser432ValfsTer4
ENST00000589941.2:c.1294del	ENSP00000465874.2:p.Ser432ValfsTer4
ENST00000590061.2:c.1294del	ENSP00000464772.2:p.Ser432ValfsTer4
ENST00000593223.2:c.1294del	ENSP00000466118.2:p.Ser432ValfsTer4
ENST00000611848.2:c.1294del	ENSP00000478613.2:p.Ser432ValfsTer4
ENST00000684953.1:n.2666del
ENST00000685090.1:n.1745del
ENST00000685232.1:n.1402del
ENST00000688574.1:n.1402del
ENST00000691124.1:n.2776del
ENST00000342988.8:c.1294del MANE Select	ENSP00000341551.3:p.Ser432ValfsTer4
ENST00000342988.7:c.1294del	ENSP00000341551.3:p.Ser432ValfsTer4
ENST00000398417.6:c.1294del	ENSP00000381452.1:p.Ser432ValfsTer4
ENST00000588745.5:c.1006del	ENSP00000464901.1:p.Ser336ValfsTer4
ENST00000590499.1:n.352del
ENST00000591126.5:n.3295del
ENST00000592186.5:c.955+7257del	ENSP00000468611.1:n.955+7257del
ENST00000593223.1:c.61del	ENSP00000466118.1:p.Ser21ValfsTer4
ENST00000611848.1:c.494del
NM_005359.5:c.1294del , LRG_318t1:c.1294del	NP_005350.1:p.Ser432ValfsTer4
NM_005359.6:c.1294del MANE Select	NP_005350.1:p.Ser432ValfsTer4