Canonical Allele Identifier: CA645609176

Gene: SMAD4

Linked Data

• COSMIC: COSM87512

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067107_51067108insCA , CM000680.2:g.51067107_51067108insCA	GRCh38
NC_000018.9:g.48593477_48593478insCA , CM000680.1:g.48593477_48593478insCA	GRCh37
NC_000018.8:g.46847475_46847476insCA	NCBI36
NG_013013.2:g.104068_104069insCA , LRG_318:g.104068_104069insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1228_1229insCA	ENSP00000465878.2:p.Gln410ProfsTer6
ENST00000589076.6:c.1228_1229insCA	ENSP00000466934.2:p.Gln410ProfsTer6
ENST00000589941.2:c.1228_1229insCA	ENSP00000465874.2:p.Gln410ProfsTer6
ENST00000590061.2:c.1228_1229insCA	ENSP00000464772.2:p.Gln410ProfsTer6
ENST00000593223.2:c.1228_1229insCA	ENSP00000466118.2:p.Gln410ProfsTer6
ENST00000611848.2:c.1228_1229insCA	ENSP00000478613.2:p.Gln410ProfsTer6
ENST00000684953.1:n.2600_2601insCA
ENST00000685090.1:n.1679_1680insCA
ENST00000685232.1:n.1336_1337insCA
ENST00000688574.1:n.1336_1337insCA
ENST00000691124.1:n.2710_2711insCA
ENST00000342988.8:c.1228_1229insCA MANE Select	ENSP00000341551.3:p.Gln410ProfsTer6
ENST00000342988.7:c.1228_1229insCA	ENSP00000341551.3:p.Gln410ProfsTer6
ENST00000398417.6:c.1228_1229insCA	ENSP00000381452.1:p.Gln410ProfsTer6
ENST00000588745.5:c.940_941insCA	ENSP00000464901.1:p.Gln314ProfsTer6
ENST00000590499.1:n.286_287insCA
ENST00000591126.5:n.3229_3230insCA
ENST00000592186.5:c.955+7191_955+7192insCA	ENSP00000468611.1:n.955+7191_955+7192insCA
ENST00000611848.1:c.428_429insCA
NM_005359.5:c.1228_1229insCA , LRG_318t1:c.1228_1229insCA	NP_005350.1:p.Gln410ProfsTer6
NM_005359.6:c.1228_1229insCA MANE Select	NP_005350.1:p.Gln410ProfsTer6