Canonical Allele Identifier: CA2302977222

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058374_51058375delinsAC , CM000680.2:g.51058374_51058375delinsAC	GRCh38
NC_000018.9:g.48584744_48584745delinsAC , CM000680.1:g.48584744_48584745delinsAC	GRCh37
NC_000018.8:g.46838742_46838743delinsAC	NCBI36
NG_013013.2:g.95335_95336delinsAC , LRG_318:g.95335_95336delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.822_823delinsAC	ENSP00000465878.2:p.Ala274=
ENST00000589076.6:c.822_823delinsAC	ENSP00000466934.2:p.Ala274=
ENST00000589941.2:c.822_823delinsAC	ENSP00000465874.2:p.Ala274=
ENST00000590061.2:c.822_823delinsAC	ENSP00000464772.2:p.Ala274=
ENST00000593223.2:c.822_823delinsAC	ENSP00000466118.2:p.Ala274=
ENST00000611848.2:c.822_823delinsAC	ENSP00000478613.2:p.Ala274=
ENST00000684953.1:n.2194_2195delinsAC
ENST00000685232.1:n.930_931delinsAC
ENST00000688307.1:n.156-1492_156-1491delinsAC
ENST00000688574.1:n.930_931delinsAC
ENST00000688903.1:n.1036_1037delinsAC
ENST00000690892.1:n.930_931delinsAC
ENST00000342988.8:c.822_823delinsAC MANE Select	ENSP00000341551.3:p.Ala274=
ENST00000342988.7:c.822_823delinsAC	ENSP00000341551.3:p.Ala274=
ENST00000398417.6:c.822_823delinsAC	ENSP00000381452.1:p.Ala274=
ENST00000588745.5:c.667+3381_667+3382delinsAC	ENSP00000464901.1:n.667+3381_667+3382delinsAC
ENST00000591126.5:n.2823_2824delinsAC
ENST00000592186.5:c.822_823delinsAC	ENSP00000468611.1:p.Ala274=
ENST00000611848.1:c.22_23delinsAC
NM_005359.5:c.822_823delinsAC , LRG_318t1:c.822_823delinsAC	NP_005350.1:p.Ala274=
NM_005359.6:c.822_823delinsAC MANE Select	NP_005350.1:p.Ala274=