Canonical Allele Identifier: CA645609168

Gene: SMAD4

Linked Data

• COSMIC: COSM5369895

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065589_51065590dup , CM000680.2:g.51065589_51065590dup	GRCh38
NC_000018.9:g.48591959_48591960dup , CM000680.1:g.48591959_48591960dup	GRCh37
NC_000018.8:g.46845957_46845958dup	NCBI36
NG_013013.2:g.102550_102551dup , LRG_318:g.102550_102551dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1122_1123dup	ENSP00000465878.2:p.Ala375GlufsTer10
ENST00000589076.6:c.1122_1123dup	ENSP00000466934.2:p.Ala375GlufsTer10
ENST00000589941.2:c.1122_1123dup	ENSP00000465874.2:p.Ala375GlufsTer10
ENST00000590061.2:c.1122_1123dup	ENSP00000464772.2:p.Ala375GlufsTer10
ENST00000593223.2:c.1122_1123dup	ENSP00000466118.2:p.Ala375GlufsTer10
ENST00000611848.2:c.1122_1123dup	ENSP00000478613.2:p.Ala375GlufsTer10
ENST00000684953.1:n.2494_2495dup
ENST00000685090.1:n.1573_1574dup
ENST00000685232.1:n.1230_1231dup
ENST00000688307.1:n.373_374dup
ENST00000688574.1:n.1230_1231dup
ENST00000688903.1:n.1336_1337dup
ENST00000691124.1:n.2604_2605dup
ENST00000342988.8:c.1122_1123dup MANE Select	ENSP00000341551.3:p.Ala375GlufsTer10
ENST00000342988.7:c.1122_1123dup	ENSP00000341551.3:p.Ala375GlufsTer10
ENST00000398417.6:c.1122_1123dup	ENSP00000381452.1:p.Ala375GlufsTer10
ENST00000588745.5:c.834_835dup	ENSP00000464901.1:p.Ala279GlufsTer10
ENST00000591126.5:n.3123_3124dup
ENST00000592186.5:c.955+5673_955+5674dup	ENSP00000468611.1:n.955+5673_955+5674dup
ENST00000611848.1:c.322_323dup
NM_005359.5:c.1122_1123dup , LRG_318t1:c.1122_1123dup	NP_005350.1:p.Ala375GlufsTer10
NM_005359.6:c.1122_1123dup MANE Select	NP_005350.1:p.Ala375GlufsTer10