Canonical Allele Identifier: CA645609192

Gene: SMAD4

Linked Data

• COSMIC: COSM85640

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078316dup , CM000680.2:g.51078316dup	GRCh38
NC_000018.9:g.48604686dup , CM000680.1:g.48604686dup	GRCh37
NC_000018.8:g.46858684dup	NCBI36
NG_013013.2:g.115277dup , LRG_318:g.115277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1508dup	ENSP00000465878.2:p.Met503IlefsTer24
ENST00000589076.6:c.1508dup	ENSP00000466934.2:p.Met503IlefsTer24
ENST00000589941.2:c.1508dup	ENSP00000465874.2:p.Met503IlefsTer24
ENST00000590061.2:c.1508dup	ENSP00000464772.2:p.Met503IlefsTer24
ENST00000593223.2:c.*1505dup	ENSP00000466118.2:n.*1505dup
ENST00000611848.2:c.*160dup	ENSP00000478613.2:n.*160dup
ENST00000684953.1:n.3523dup
ENST00000685090.1:n.3438dup
ENST00000685232.1:n.1729dup
ENST00000688574.1:n.1616dup
ENST00000691124.1:n.4469dup
ENST00000342988.8:c.1508dup MANE Select	ENSP00000341551.3:p.Met503IlefsTer24
ENST00000342988.7:c.1508dup	ENSP00000341551.3:p.Met503IlefsTer24
ENST00000398417.6:c.1508dup	ENSP00000381452.1:p.Met503IlefsTer24
ENST00000586253.1:n.230dup
ENST00000588745.5:c.1220dup	ENSP00000464901.1:p.Met407IlefsTer24
ENST00000591126.5:n.3509dup
ENST00000592186.5:c.1155dup	ENSP00000468611.1:n.1155dup
ENST00000611848.1:c.821dup
NM_005359.5:c.1508dup , LRG_318t1:c.1508dup	NP_005350.1:p.Met503IlefsTer24
NM_005359.6:c.1508dup MANE Select	NP_005350.1:p.Met503IlefsTer24