Canonical Allele Identifier: CA2302981472

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51066999_51067000delinsAT , CM000680.2:g.51066999_51067000delinsAT	GRCh38
NC_000018.9:g.48593369_48593370delinsAT , CM000680.1:g.48593369_48593370delinsAT	GRCh37
NC_000018.8:g.46847367_46847368delinsAT	NCBI36
NG_013013.2:g.103960_103961delinsAT , LRG_318:g.103960_103961delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1140-20_1140-19delinsAT	ENSP00000465878.2:n.1140-20_1140-19delinsAT
ENST00000589076.6:c.1140-20_1140-19delinsAT	ENSP00000466934.2:n.1140-20_1140-19delinsAT
ENST00000589941.2:c.1140-20_1140-19delinsAT	ENSP00000465874.2:n.1140-20_1140-19delinsAT
ENST00000590061.2:c.1140-20_1140-19delinsAT	ENSP00000464772.2:n.1140-20_1140-19delinsAT
ENST00000593223.2:c.1140-20_1140-19delinsAT	ENSP00000466118.2:n.1140-20_1140-19delinsAT
ENST00000611848.2:c.1140-20_1140-19delinsAT	ENSP00000478613.2:n.1140-20_1140-19delinsAT
ENST00000684953.1:n.2512-20_2512-19delinsAT
ENST00000685090.1:n.1591-20_1591-19delinsAT
ENST00000685232.1:n.1248-20_1248-19delinsAT
ENST00000688574.1:n.1248-20_1248-19delinsAT
ENST00000691124.1:n.2622-20_2622-19delinsAT
ENST00000342988.8:c.1140-20_1140-19delinsAT MANE Select	ENSP00000341551.3:n.1140-20_1140-19delinsAT
ENST00000342988.7:c.1140-20_1140-19delinsAT	ENSP00000341551.3:n.1140-20_1140-19delinsAT
ENST00000398417.6:c.1140-20_1140-19delinsAT	ENSP00000381452.1:n.1140-20_1140-19delinsAT
ENST00000588745.5:c.852-20_852-19delinsAT	ENSP00000464901.1:n.852-20_852-19delinsAT
ENST00000590499.1:n.178_179delinsAT
ENST00000591126.5:n.3141-20_3141-19delinsAT
ENST00000592186.5:c.955+7083_955+7084delinsAT	ENSP00000468611.1:n.955+7083_955+7084delinsAT
ENST00000611848.1:c.340-20_340-19delinsAT
NM_005359.5:c.1140-20_1140-19delinsAT , LRG_318t1:c.1140-20_1140-19delinsAT	NP_005350.1:n.1140-20_1140-19delinsAT
NM_005359.6:c.1140-20_1140-19delinsAT MANE Select	NP_005350.1:n.1140-20_1140-19delinsAT