Canonical Allele Identifier: CA2302986896

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078333_51078334delinsTG , CM000680.2:g.51078333_51078334delinsTG	GRCh38
NC_000018.9:g.48604703_48604704delinsTG , CM000680.1:g.48604703_48604704delinsTG	GRCh37
NC_000018.8:g.46858701_46858702delinsTG	NCBI36
NG_013013.2:g.115294_115295delinsTG , LRG_318:g.115294_115295delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1525_1526delinsTG	ENSP00000465878.2:p.Trp509=
ENST00000589076.6:c.1525_1526delinsTG	ENSP00000466934.2:p.Trp509=
ENST00000589941.2:c.1525_1526delinsTG	ENSP00000465874.2:p.Trp509=
ENST00000590061.2:c.1525_1526delinsTG	ENSP00000464772.2:p.Trp509=
ENST00000593223.2:c.*1522_*1523delinsTG	ENSP00000466118.2:n.*1522_*1523delinsTG
ENST00000611848.2:c.*177_*178delinsTG	ENSP00000478613.2:n.*177_*178delinsTG
ENST00000684953.1:n.3540_3541delinsTG
ENST00000685090.1:n.3455_3456delinsTG
ENST00000685232.1:n.1746_1747delinsTG
ENST00000688574.1:n.1633_1634delinsTG
ENST00000691124.1:n.4486_4487delinsTG
ENST00000342988.8:c.1525_1526delinsTG MANE Select	ENSP00000341551.3:p.Trp509=
ENST00000342988.7:c.1525_1526delinsTG	ENSP00000341551.3:p.Trp509=
ENST00000398417.6:c.1525_1526delinsTG	ENSP00000381452.1:p.Trp509=
ENST00000586253.1:n.247_248delinsTG
ENST00000588745.5:c.1237_1238delinsTG	ENSP00000464901.1:p.Trp413=
ENST00000591126.5:n.3526_3527delinsTG
ENST00000592186.5:c.1172_1173delinsTG	ENSP00000468611.1:n.1172_1173delinsTG
ENST00000611848.1:c.838_839delinsTG
NM_005359.5:c.1525_1526delinsTG , LRG_318t1:c.1525_1526delinsTG	NP_005350.1:p.Trp509=
NM_005359.6:c.1525_1526delinsTG MANE Select	NP_005350.1:p.Trp509=