Canonical Allele Identifier: CA2302981452

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51066963_51066968delinsAAATTT , CM000680.2:g.51066963_51066968delinsAAATTT	GRCh38
NC_000018.9:g.48593333_48593338delinsAAATTT , CM000680.1:g.48593333_48593338delinsAAATTT	GRCh37
NC_000018.8:g.46847331_46847336delinsAAATTT	NCBI36
NG_013013.2:g.103924_103929delinsAAATTT , LRG_318:g.103924_103929delinsAAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1140-56_1140-51delinsAAATTT	ENSP00000465878.2:n.1140-56_1140-51delinsAAATTT
ENST00000589076.6:c.1140-56_1140-51delinsAAATTT	ENSP00000466934.2:n.1140-56_1140-51delinsAAATTT
ENST00000589941.2:c.1140-56_1140-51delinsAAATTT	ENSP00000465874.2:n.1140-56_1140-51delinsAAATTT
ENST00000590061.2:c.1140-56_1140-51delinsAAATTT	ENSP00000464772.2:n.1140-56_1140-51delinsAAATTT
ENST00000593223.2:c.1140-56_1140-51delinsAAATTT	ENSP00000466118.2:n.1140-56_1140-51delinsAAATTT
ENST00000611848.2:c.1140-56_1140-51delinsAAATTT	ENSP00000478613.2:n.1140-56_1140-51delinsAAATTT
ENST00000684953.1:n.2512-56_2512-51delinsAAATTT
ENST00000685090.1:n.1591-56_1591-51delinsAAATTT
ENST00000685232.1:n.1248-56_1248-51delinsAAATTT
ENST00000688574.1:n.1248-56_1248-51delinsAAATTT
ENST00000691124.1:n.2622-56_2622-51delinsAAATTT
ENST00000342988.8:c.1140-56_1140-51delinsAAATTT MANE Select	ENSP00000341551.3:n.1140-56_1140-51delinsAAATTT
ENST00000342988.7:c.1140-56_1140-51delinsAAATTT	ENSP00000341551.3:n.1140-56_1140-51delinsAAATTT
ENST00000398417.6:c.1140-56_1140-51delinsAAATTT	ENSP00000381452.1:n.1140-56_1140-51delinsAAATTT
ENST00000588745.5:c.852-56_852-51delinsAAATTT	ENSP00000464901.1:n.852-56_852-51delinsAAATTT
ENST00000590499.1:n.142_147delinsAAATTT
ENST00000591126.5:n.3141-56_3141-51delinsAAATTT
ENST00000592186.5:c.955+7047_955+7052delinsAAATTT	ENSP00000468611.1:n.955+7047_955+7052delinsAAATTT
ENST00000611848.1:c.340-56_340-51delinsAAATTT
NM_005359.5:c.1140-56_1140-51delinsAAATTT , LRG_318t1:c.1140-56_1140-51delinsAAATTT	NP_005350.1:n.1140-56_1140-51delinsAAATTT
NM_005359.6:c.1140-56_1140-51delinsAAATTT MANE Select	NP_005350.1:n.1140-56_1140-51delinsAAATTT