Canonical Allele Identifier: CA2302980468

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065488_51065489delinsGT , CM000680.2:g.51065488_51065489delinsGT	GRCh38
NC_000018.9:g.48591858_48591859delinsGT , CM000680.1:g.48591858_48591859delinsGT	GRCh37
NC_000018.8:g.46845856_46845857delinsGT	NCBI36
NG_013013.2:g.102449_102450delinsGT , LRG_318:g.102449_102450delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1021_1022delinsGT	ENSP00000465878.2:p.Val341=
ENST00000589076.6:c.1021_1022delinsGT	ENSP00000466934.2:p.Val341=
ENST00000589941.2:c.1021_1022delinsGT	ENSP00000465874.2:p.Val341=
ENST00000590061.2:c.1021_1022delinsGT	ENSP00000464772.2:p.Val341=
ENST00000593223.2:c.1021_1022delinsGT	ENSP00000466118.2:p.Val341=
ENST00000611848.2:c.1021_1022delinsGT	ENSP00000478613.2:p.Val341=
ENST00000684953.1:n.2393_2394delinsGT
ENST00000685090.1:n.1472_1473delinsGT
ENST00000685232.1:n.1129_1130delinsGT
ENST00000688307.1:n.272_273delinsGT
ENST00000688574.1:n.1129_1130delinsGT
ENST00000688903.1:n.1235_1236delinsGT
ENST00000691124.1:n.2503_2504delinsGT
ENST00000342988.8:c.1021_1022delinsGT MANE Select	ENSP00000341551.3:p.Val341=
ENST00000342988.7:c.1021_1022delinsGT	ENSP00000341551.3:p.Val341=
ENST00000398417.6:c.1021_1022delinsGT	ENSP00000381452.1:p.Val341=
ENST00000588745.5:c.733_734delinsGT	ENSP00000464901.1:p.Val245=
ENST00000591126.5:n.3022_3023delinsGT
ENST00000592186.5:c.955+5572_955+5573delinsGT	ENSP00000468611.1:n.955+5572_955+5573delinsGT
ENST00000611848.1:c.221_222delinsGT
NM_005359.5:c.1021_1022delinsGT , LRG_318t1:c.1021_1022delinsGT	NP_005350.1:p.Val341=
NM_005359.6:c.1021_1022delinsGT MANE Select	NP_005350.1:p.Val341=