Canonical Allele Identifier: CA645609174

Gene: SMAD4

Linked Data

• COSMIC: COSM1645214

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067106_51067119del , CM000680.2:g.51067106_51067119del	GRCh38
NC_000018.9:g.48593476_48593489del , CM000680.1:g.48593476_48593489del	GRCh37
NC_000018.8:g.46847474_46847487del	NCBI36
NG_013013.2:g.104067_104080del , LRG_318:g.104067_104080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1227_1240del	ENSP00000465878.2:p.Gln410ArgfsTer14
ENST00000589076.6:c.1227_1240del	ENSP00000466934.2:p.Gln410ArgfsTer14
ENST00000589941.2:c.1227_1240del	ENSP00000465874.2:p.Gln410ArgfsTer14
ENST00000590061.2:c.1227_1240del	ENSP00000464772.2:p.Gln410ArgfsTer14
ENST00000593223.2:c.1227_1240del	ENSP00000466118.2:p.Gln410ArgfsTer14
ENST00000611848.2:c.1227_1240del	ENSP00000478613.2:p.Gln410ArgfsTer14
ENST00000684953.1:n.2599_2612del
ENST00000685090.1:n.1678_1691del
ENST00000685232.1:n.1335_1348del
ENST00000688574.1:n.1335_1348del
ENST00000691124.1:n.2709_2722del
ENST00000342988.8:c.1227_1240del MANE Select	ENSP00000341551.3:p.Gln410ArgfsTer14
ENST00000342988.7:c.1227_1240del	ENSP00000341551.3:p.Gln410ArgfsTer14
ENST00000398417.6:c.1227_1240del	ENSP00000381452.1:p.Gln410ArgfsTer14
ENST00000588745.5:c.939_952del	ENSP00000464901.1:p.Gln314ArgfsTer14
ENST00000590499.1:n.285_298del
ENST00000591126.5:n.3228_3241del
ENST00000592186.5:c.955+7190_955+7203del	ENSP00000468611.1:n.955+7190_955+7203del
ENST00000611848.1:c.427_440del
NM_005359.5:c.1227_1240del , LRG_318t1:c.1227_1240del	NP_005350.1:p.Gln410ArgfsTer14
NM_005359.6:c.1227_1240del MANE Select	NP_005350.1:p.Gln410ArgfsTer14