Canonical Allele Identifier: CA2302980495

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065507_51065509delinsTTG , CM000680.2:g.51065507_51065509delinsTTG	GRCh38
NC_000018.9:g.48591877_48591879delinsTTG , CM000680.1:g.48591877_48591879delinsTTG	GRCh37
NC_000018.8:g.46845875_46845877delinsTTG	NCBI36
NG_013013.2:g.102468_102470delinsTTG , LRG_318:g.102468_102470delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1040_1042delinsTTG	ENSP00000465878.2:p.Ile347=
ENST00000589076.6:c.1040_1042delinsTTG	ENSP00000466934.2:p.Ile347=
ENST00000589941.2:c.1040_1042delinsTTG	ENSP00000465874.2:p.Ile347=
ENST00000590061.2:c.1040_1042delinsTTG	ENSP00000464772.2:p.Ile347=
ENST00000593223.2:c.1040_1042delinsTTG	ENSP00000466118.2:p.Ile347=
ENST00000611848.2:c.1040_1042delinsTTG	ENSP00000478613.2:p.Ile347=
ENST00000684953.1:n.2412_2414delinsTTG
ENST00000685090.1:n.1491_1493delinsTTG
ENST00000685232.1:n.1148_1150delinsTTG
ENST00000688307.1:n.291_293delinsTTG
ENST00000688574.1:n.1148_1150delinsTTG
ENST00000688903.1:n.1254_1256delinsTTG
ENST00000691124.1:n.2522_2524delinsTTG
ENST00000342988.8:c.1040_1042delinsTTG MANE Select	ENSP00000341551.3:p.Ile347=
ENST00000342988.7:c.1040_1042delinsTTG	ENSP00000341551.3:p.Ile347=
ENST00000398417.6:c.1040_1042delinsTTG	ENSP00000381452.1:p.Ile347=
ENST00000588745.5:c.752_754delinsTTG	ENSP00000464901.1:p.Ile251=
ENST00000591126.5:n.3041_3043delinsTTG
ENST00000592186.5:c.955+5591_955+5593delinsTTG	ENSP00000468611.1:n.955+5591_955+5593delinsTTG
ENST00000611848.1:c.240_242delinsTTG
NM_005359.5:c.1040_1042delinsTTG , LRG_318t1:c.1040_1042delinsTTG	NP_005350.1:p.Ile347=
NM_005359.6:c.1040_1042delinsTTG MANE Select	NP_005350.1:p.Ile347=