Canonical Allele Identifier: CA2302986739

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51077981_51077983delinsGAA , CM000680.2:g.51077981_51077983delinsGAA	GRCh38
NC_000018.9:g.48604351_48604353delinsGAA , CM000680.1:g.48604351_48604353delinsGAA	GRCh37
NC_000018.8:g.46858349_46858351delinsGAA	NCBI36
NG_013013.2:g.114942_114944delinsGAA , LRG_318:g.114942_114944delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1448-275_1448-273delinsGAA	ENSP00000465878.2:n.1448-275_1448-273delinsGAA
ENST00000589076.6:c.1448-275_1448-273delinsGAA	ENSP00000466934.2:n.1448-275_1448-273delinsGAA
ENST00000589941.2:c.1448-275_1448-273delinsGAA	ENSP00000465874.2:n.1448-275_1448-273delinsGAA
ENST00000590061.2:c.1448-275_1448-273delinsGAA	ENSP00000464772.2:n.1448-275_1448-273delinsGAA
ENST00000593223.2:c.*1170_*1172delinsGAA	ENSP00000466118.2:n.*1170_*1172delinsGAA
ENST00000611848.2:c.*100-275_*100-273delinsGAA	ENSP00000478613.2:n.*100-275_*100-273delinsGAA
ENST00000684953.1:n.3463-275_3463-273delinsGAA
ENST00000685090.1:n.3103_3105delinsGAA
ENST00000685232.1:n.1669-275_1669-273delinsGAA
ENST00000688574.1:n.1556-275_1556-273delinsGAA
ENST00000691124.1:n.4134_4136delinsGAA
ENST00000342988.8:c.1448-275_1448-273delinsGAA MANE Select	ENSP00000341551.3:n.1448-275_1448-273delinsGAA
ENST00000342988.7:c.1448-275_1448-273delinsGAA	ENSP00000341551.3:n.1448-275_1448-273delinsGAA
ENST00000398417.6:c.1448-275_1448-273delinsGAA	ENSP00000381452.1:n.1448-275_1448-273delinsGAA
ENST00000586253.1:n.170-275_170-273delinsGAA
ENST00000588745.5:c.1160-275_1160-273delinsGAA	ENSP00000464901.1:n.1160-275_1160-273delinsGAA
ENST00000591126.5:n.3449-275_3449-273delinsGAA
ENST00000592186.5:c.1095-275_1095-273delinsGAA	ENSP00000468611.1:n.1095-275_1095-273delinsGAA
ENST00000611848.1:c.761-275_761-273delinsGAA
NM_005359.5:c.1448-275_1448-273delinsGAA , LRG_318t1:c.1448-275_1448-273delinsGAA	NP_005350.1:n.1448-275_1448-273delinsGAA
NM_005359.6:c.1448-275_1448-273delinsGAA MANE Select	NP_005350.1:n.1448-275_1448-273delinsGAA