Canonical Allele Identifier: CA2302981534

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067120_51067124delinsTAGAC , CM000680.2:g.51067120_51067124delinsTAGAC	GRCh38
NC_000018.9:g.48593490_48593494delinsTAGAC , CM000680.1:g.48593490_48593494delinsTAGAC	GRCh37
NC_000018.8:g.46847488_46847492delinsTAGAC	NCBI36
NG_013013.2:g.104081_104085delinsTAGAC , LRG_318:g.104081_104085delinsTAGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1241_1245delinsTAGAC	ENSP00000465878.2:p.Leu414=
ENST00000589076.6:c.1241_1245delinsTAGAC	ENSP00000466934.2:p.Leu414=
ENST00000589941.2:c.1241_1245delinsTAGAC	ENSP00000465874.2:p.Leu414=
ENST00000590061.2:c.1241_1245delinsTAGAC	ENSP00000464772.2:p.Leu414=
ENST00000593223.2:c.1241_1245delinsTAGAC	ENSP00000466118.2:p.Leu414=
ENST00000611848.2:c.1241_1245delinsTAGAC	ENSP00000478613.2:p.Leu414=
ENST00000684953.1:n.2613_2617delinsTAGAC
ENST00000685090.1:n.1692_1696delinsTAGAC
ENST00000685232.1:n.1349_1353delinsTAGAC
ENST00000688574.1:n.1349_1353delinsTAGAC
ENST00000691124.1:n.2723_2727delinsTAGAC
ENST00000342988.8:c.1241_1245delinsTAGAC MANE Select	ENSP00000341551.3:p.Leu414=
ENST00000342988.7:c.1241_1245delinsTAGAC	ENSP00000341551.3:p.Leu414=
ENST00000398417.6:c.1241_1245delinsTAGAC	ENSP00000381452.1:p.Leu414=
ENST00000588745.5:c.953_957delinsTAGAC	ENSP00000464901.1:p.Leu318=
ENST00000590499.1:n.299_303delinsTAGAC
ENST00000591126.5:n.3242_3246delinsTAGAC
ENST00000592186.5:c.955+7204_955+7208delinsTAGAC	ENSP00000468611.1:n.955+7204_955+7208deli...
ENST00000593223.1:c.8_12delinsTAGAC	ENSP00000466118.1:p.Leu3=
ENST00000611848.1:c.441_445delinsTAGAC
NM_005359.5:c.1241_1245delinsTAGAC , LRG_318t1:c.1241_1245delinsTAGAC	NP_005350.1:p.Leu414=
NM_005359.6:c.1241_1245delinsTAGAC MANE Select	NP_005350.1:p.Leu414=