Canonical Allele Identifier: CA2302986840

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078234_51078235delinsTC , CM000680.2:g.51078234_51078235delinsTC	GRCh38
NC_000018.9:g.48604604_48604605delinsTC , CM000680.1:g.48604604_48604605delinsTC	GRCh37
NC_000018.8:g.46858602_46858603delinsTC	NCBI36
NG_013013.2:g.115195_115196delinsTC , LRG_318:g.115195_115196delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1448-22_1448-21delinsTC	ENSP00000465878.2:n.1448-22_1448-21delinsTC
ENST00000589076.6:c.1448-22_1448-21delinsTC	ENSP00000466934.2:n.1448-22_1448-21delinsTC
ENST00000589941.2:c.1448-22_1448-21delinsTC	ENSP00000465874.2:n.1448-22_1448-21delinsTC
ENST00000590061.2:c.1448-22_1448-21delinsTC	ENSP00000464772.2:n.1448-22_1448-21delinsTC
ENST00000593223.2:c.*1423_*1424delinsTC	ENSP00000466118.2:n.*1423_*1424delinsTC
ENST00000611848.2:c.*100-22_*100-21delinsTC	ENSP00000478613.2:n.*100-22_*100-21delinsTC
ENST00000684953.1:n.3463-22_3463-21delinsTC
ENST00000685090.1:n.3356_3357delinsTC
ENST00000685232.1:n.1669-22_1669-21delinsTC
ENST00000688574.1:n.1556-22_1556-21delinsTC
ENST00000691124.1:n.4387_4388delinsTC
ENST00000342988.8:c.1448-22_1448-21delinsTC MANE Select	ENSP00000341551.3:n.1448-22_1448-21delinsTC
ENST00000342988.7:c.1448-22_1448-21delinsTC	ENSP00000341551.3:n.1448-22_1448-21delinsTC
ENST00000398417.6:c.1448-22_1448-21delinsTC	ENSP00000381452.1:n.1448-22_1448-21delinsTC
ENST00000586253.1:n.170-22_170-21delinsTC
ENST00000588745.5:c.1160-22_1160-21delinsTC	ENSP00000464901.1:n.1160-22_1160-21delinsTC
ENST00000591126.5:n.3449-22_3449-21delinsTC
ENST00000592186.5:c.1095-22_1095-21delinsTC	ENSP00000468611.1:n.1095-22_1095-21delinsTC
ENST00000611848.1:c.761-22_761-21delinsTC
NM_005359.5:c.1448-22_1448-21delinsTC , LRG_318t1:c.1448-22_1448-21delinsTC	NP_005350.1:n.1448-22_1448-21delinsTC
NM_005359.6:c.1448-22_1448-21delinsTC MANE Select	NP_005350.1:n.1448-22_1448-21delinsTC