Canonical Allele Identifier: CA645609169

Gene: SMAD4

Linked Data

• COSMIC: COSM5762209

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065595_51065596dup , CM000680.2:g.51065595_51065596dup	GRCh38
NC_000018.9:g.48591965_48591966dup , CM000680.1:g.48591965_48591966dup	GRCh37
NC_000018.8:g.46845963_46845964dup	NCBI36
NG_013013.2:g.102556_102557dup , LRG_318:g.102556_102557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1128_1129dup	ENSP00000465878.2:p.Glu377ValfsTer8
ENST00000589076.6:c.1128_1129dup	ENSP00000466934.2:p.Glu377ValfsTer8
ENST00000589941.2:c.1128_1129dup	ENSP00000465874.2:p.Glu377ValfsTer8
ENST00000590061.2:c.1128_1129dup	ENSP00000464772.2:p.Glu377ValfsTer8
ENST00000593223.2:c.1128_1129dup	ENSP00000466118.2:p.Glu377ValfsTer8
ENST00000611848.2:c.1128_1129dup	ENSP00000478613.2:p.Glu377ValfsTer8
ENST00000684953.1:n.2500_2501dup
ENST00000685090.1:n.1579_1580dup
ENST00000685232.1:n.1236_1237dup
ENST00000688307.1:n.379_380dup
ENST00000688574.1:n.1236_1237dup
ENST00000688903.1:n.1342_1343dup
ENST00000691124.1:n.2610_2611dup
ENST00000342988.8:c.1128_1129dup MANE Select	ENSP00000341551.3:p.Glu377ValfsTer8
ENST00000342988.7:c.1128_1129dup	ENSP00000341551.3:p.Glu377ValfsTer8
ENST00000398417.6:c.1128_1129dup	ENSP00000381452.1:p.Glu377ValfsTer8
ENST00000588745.5:c.840_841dup	ENSP00000464901.1:p.Glu281ValfsTer8
ENST00000591126.5:n.3129_3130dup
ENST00000592186.5:c.955+5679_955+5680dup	ENSP00000468611.1:n.955+5679_955+5680dup
ENST00000611848.1:c.328_329dup
NM_005359.5:c.1128_1129dup , LRG_318t1:c.1128_1129dup	NP_005350.1:p.Glu377ValfsTer8
NM_005359.6:c.1128_1129dup MANE Select	NP_005350.1:p.Glu377ValfsTer8