Canonical Allele Identifier: CA2302980677

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065579_51065580delinsAC , CM000680.2:g.51065579_51065580delinsAC	GRCh38
NC_000018.9:g.48591949_48591950delinsAC , CM000680.1:g.48591949_48591950delinsAC	GRCh37
NC_000018.8:g.46845947_46845948delinsAC	NCBI36
NG_013013.2:g.102540_102541delinsAC , LRG_318:g.102540_102541delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1112_1113delinsAC	ENSP00000465878.2:p.His371=
ENST00000589076.6:c.1112_1113delinsAC	ENSP00000466934.2:p.His371=
ENST00000589941.2:c.1112_1113delinsAC	ENSP00000465874.2:p.His371=
ENST00000590061.2:c.1112_1113delinsAC	ENSP00000464772.2:p.His371=
ENST00000593223.2:c.1112_1113delinsAC	ENSP00000466118.2:p.His371=
ENST00000611848.2:c.1112_1113delinsAC	ENSP00000478613.2:p.His371=
ENST00000684953.1:n.2484_2485delinsAC
ENST00000685090.1:n.1563_1564delinsAC
ENST00000685232.1:n.1220_1221delinsAC
ENST00000688307.1:n.363_364delinsAC
ENST00000688574.1:n.1220_1221delinsAC
ENST00000688903.1:n.1326_1327delinsAC
ENST00000691124.1:n.2594_2595delinsAC
ENST00000342988.8:c.1112_1113delinsAC MANE Select	ENSP00000341551.3:p.His371=
ENST00000342988.7:c.1112_1113delinsAC	ENSP00000341551.3:p.His371=
ENST00000398417.6:c.1112_1113delinsAC	ENSP00000381452.1:p.His371=
ENST00000588745.5:c.824_825delinsAC	ENSP00000464901.1:p.His275=
ENST00000591126.5:n.3113_3114delinsAC
ENST00000592186.5:c.955+5663_955+5664delinsAC	ENSP00000468611.1:n.955+5663_955+5664delinsAC
ENST00000611848.1:c.312_313delinsAC
NM_005359.5:c.1112_1113delinsAC , LRG_318t1:c.1112_1113delinsAC	NP_005350.1:p.His371=
NM_005359.6:c.1112_1113delinsAC MANE Select	NP_005350.1:p.His371=