Canonical Allele Identifier: CA645609178

Gene: SMAD4

Linked Data

• COSMIC: COSM1158549

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067121_51067122insAA , CM000680.2:g.51067121_51067122insAA	GRCh38
NC_000018.9:g.48593491_48593492insAA , CM000680.1:g.48593491_48593492insAA	GRCh37
NC_000018.8:g.46847489_46847490insAA	NCBI36
NG_013013.2:g.104082_104083insAA , LRG_318:g.104082_104083insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1242_1243insAA	ENSP00000465878.2:p.Asp415LysfsTer22
ENST00000589076.6:c.1242_1243insAA	ENSP00000466934.2:p.Asp415LysfsTer22
ENST00000589941.2:c.1242_1243insAA	ENSP00000465874.2:p.Asp415LysfsTer22
ENST00000590061.2:c.1242_1243insAA	ENSP00000464772.2:p.Asp415LysfsTer22
ENST00000593223.2:c.1242_1243insAA	ENSP00000466118.2:p.Asp415LysfsTer22
ENST00000611848.2:c.1242_1243insAA	ENSP00000478613.2:p.Asp415LysfsTer22
ENST00000684953.1:n.2614_2615insAA
ENST00000685090.1:n.1693_1694insAA
ENST00000685232.1:n.1350_1351insAA
ENST00000688574.1:n.1350_1351insAA
ENST00000691124.1:n.2724_2725insAA
ENST00000342988.8:c.1242_1243insAA MANE Select	ENSP00000341551.3:p.Asp415LysfsTer22
ENST00000342988.7:c.1242_1243insAA	ENSP00000341551.3:p.Asp415LysfsTer22
ENST00000398417.6:c.1242_1243insAA	ENSP00000381452.1:p.Asp415LysfsTer22
ENST00000588745.5:c.954_955insAA	ENSP00000464901.1:p.Asp319LysfsTer22
ENST00000590499.1:n.300_301insAA
ENST00000591126.5:n.3243_3244insAA
ENST00000592186.5:c.955+7205_955+7206insAA	ENSP00000468611.1:n.955+7205_955+7206insAA
ENST00000593223.1:c.9_10insAA	ENSP00000466118.1:p.Asp4LysfsTer22
ENST00000611848.1:c.442_443insAA
NM_005359.5:c.1242_1243insAA , LRG_318t1:c.1242_1243insAA	NP_005350.1:p.Asp415LysfsTer22
NM_005359.6:c.1242_1243insAA MANE Select	NP_005350.1:p.Asp415LysfsTer22