Canonical Allele Identifier: CA2302981635

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067320_51067322delinsAAC , CM000680.2:g.51067320_51067322delinsAAC	GRCh38
NC_000018.9:g.48593690_48593692delinsAAC , CM000680.1:g.48593690_48593692delinsAAC	GRCh37
NC_000018.8:g.46847688_46847690delinsAAC	NCBI36
NG_013013.2:g.104281_104283delinsAAC , LRG_318:g.104281_104283delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+133_1308+135delinsAAC	ENSP00000465878.2:n.1308+133_1308+135delinsAAC
ENST00000589076.6:c.1308+133_1308+135delinsAAC	ENSP00000466934.2:n.1308+133_1308+135delinsAAC
ENST00000589941.2:c.1308+133_1308+135delinsAAC	ENSP00000465874.2:n.1308+133_1308+135delinsAAC
ENST00000590061.2:c.1308+133_1308+135delinsAAC	ENSP00000464772.2:n.1308+133_1308+135delinsAAC
ENST00000593223.2:c.1308+133_1308+135delinsAAC	ENSP00000466118.2:n.1308+133_1308+135delinsAAC
ENST00000611848.2:c.1308+133_1308+135delinsAAC	ENSP00000478613.2:n.1308+133_1308+135delinsAAC
ENST00000684953.1:n.2680+133_2680+135delinsAAC
ENST00000685090.1:n.1759+133_1759+135delinsAAC
ENST00000685232.1:n.1416+133_1416+135delinsAAC
ENST00000688574.1:n.1416+133_1416+135delinsAAC
ENST00000691124.1:n.2790+133_2790+135delinsAAC
ENST00000342988.8:c.1308+133_1308+135delinsAAC MANE Select	ENSP00000341551.3:n.1308+133_1308+135delinsAAC
ENST00000342988.7:c.1308+133_1308+135delinsAAC	ENSP00000341551.3:n.1308+133_1308+135delinsAAC
ENST00000398417.6:c.1308+133_1308+135delinsAAC	ENSP00000381452.1:n.1308+133_1308+135delinsAAC
ENST00000588745.5:c.1020+133_1020+135delinsAAC	ENSP00000464901.1:n.1020+133_1020+135delinsAAC
ENST00000590499.1:n.366+133_366+135delinsAAC
ENST00000591126.5:n.3309+133_3309+135delinsAAC
ENST00000592186.5:c.955+7404_955+7406delinsAAC	ENSP00000468611.1:n.955+7404_955+7406delinsAAC
ENST00000593223.1:c.75+133_75+135delinsAAC	ENSP00000466118.1:n.75+133_75+135delinsAAC
ENST00000611848.1:c.508+133_508+135delinsAAC
NM_005359.5:c.1308+133_1308+135delinsAAC , LRG_318t1:c.1308+133_1308+135delinsAAC	NP_005350.1:n.1308+133_1308+135delinsAAC
NM_005359.6:c.1308+133_1308+135delinsAAC MANE Select	NP_005350.1:n.1308+133_1308+135delinsAAC