Canonical Allele Identifier: CA503874091

Gene: SMAD4

Linked Data

• COSMIC: COSM14094
• MyVariant Identifiers: chr18:g.48591815del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065445del , CM000680.2:g.51065445del	GRCh38
NC_000018.9:g.48591815del , CM000680.1:g.48591815del	GRCh37
NC_000018.8:g.46845813del	NCBI36
NG_013013.2:g.102406del , LRG_318:g.102406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.978del	ENSP00000465878.2:p.Ile326MetfsTer10
ENST00000589076.6:c.978del	ENSP00000466934.2:p.Ile326MetfsTer10
ENST00000589941.2:c.978del	ENSP00000465874.2:p.Ile326MetfsTer10
ENST00000590061.2:c.978del	ENSP00000464772.2:p.Ile326MetfsTer10
ENST00000593223.2:c.978del	ENSP00000466118.2:p.Ile326MetfsTer10
ENST00000611848.2:c.978del	ENSP00000478613.2:p.Ile326MetfsTer10
ENST00000684953.1:n.2350del
ENST00000685090.1:n.1429del
ENST00000685232.1:n.1086del
ENST00000688307.1:n.229del
ENST00000688574.1:n.1086del
ENST00000688903.1:n.1192del
ENST00000691124.1:n.2460del
ENST00000342988.8:c.978del MANE Select	ENSP00000341551.3:p.Ile326MetfsTer10
ENST00000342988.7:c.978del	ENSP00000341551.3:p.Ile326MetfsTer10
ENST00000398417.6:c.978del	ENSP00000381452.1:p.Ile326MetfsTer10
ENST00000588745.5:c.690del	ENSP00000464901.1:p.Ile230MetfsTer10
ENST00000591126.5:n.2979del
ENST00000592186.5:c.955+5529del	ENSP00000468611.1:n.955+5529del
ENST00000611848.1:c.178del
NM_005359.5:c.978del , LRG_318t1:c.978del	NP_005350.1:p.Ile326MetfsTer10
NM_005359.6:c.978del MANE Select	NP_005350.1:p.Ile326MetfsTer10