Canonical Allele Identifier: CA2302986736

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51077977_51077978delinsTA , CM000680.2:g.51077977_51077978delinsTA	GRCh38
NC_000018.9:g.48604347_48604348delinsTA , CM000680.1:g.48604347_48604348delinsTA	GRCh37
NC_000018.8:g.46858345_46858346delinsTA	NCBI36
NG_013013.2:g.114938_114939delinsTA , LRG_318:g.114938_114939delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1448-279_1448-278delinsTA	ENSP00000465878.2:n.1448-279_1448-278delinsTA
ENST00000589076.6:c.1448-279_1448-278delinsTA	ENSP00000466934.2:n.1448-279_1448-278delinsTA
ENST00000589941.2:c.1448-279_1448-278delinsTA	ENSP00000465874.2:n.1448-279_1448-278delinsTA
ENST00000590061.2:c.1448-279_1448-278delinsTA	ENSP00000464772.2:n.1448-279_1448-278delinsTA
ENST00000593223.2:c.*1166_*1167delinsTA	ENSP00000466118.2:n.*1166_*1167delinsTA
ENST00000611848.2:c.*100-279_*100-278delinsTA	ENSP00000478613.2:n.*100-279_*100-278delinsTA
ENST00000684953.1:n.3463-279_3463-278delinsTA
ENST00000685090.1:n.3099_3100delinsTA
ENST00000685232.1:n.1669-279_1669-278delinsTA
ENST00000688574.1:n.1556-279_1556-278delinsTA
ENST00000691124.1:n.4130_4131delinsTA
ENST00000342988.8:c.1448-279_1448-278delinsTA MANE Select	ENSP00000341551.3:n.1448-279_1448-278delinsTA
ENST00000342988.7:c.1448-279_1448-278delinsTA	ENSP00000341551.3:n.1448-279_1448-278delinsTA
ENST00000398417.6:c.1448-279_1448-278delinsTA	ENSP00000381452.1:n.1448-279_1448-278delinsTA
ENST00000586253.1:n.170-279_170-278delinsTA
ENST00000588745.5:c.1160-279_1160-278delinsTA	ENSP00000464901.1:n.1160-279_1160-278delinsTA
ENST00000591126.5:n.3449-279_3449-278delinsTA
ENST00000592186.5:c.1095-279_1095-278delinsTA	ENSP00000468611.1:n.1095-279_1095-278delinsTA
ENST00000611848.1:c.761-279_761-278delinsTA
NM_005359.5:c.1448-279_1448-278delinsTA , LRG_318t1:c.1448-279_1448-278delinsTA	NP_005350.1:n.1448-279_1448-278delinsTA
NM_005359.6:c.1448-279_1448-278delinsTA MANE Select	NP_005350.1:n.1448-279_1448-278delinsTA