Canonical Allele Identifier: CA2544644008

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078002_51078007del , CM000680.2:g.51078002_51078007del	GRCh38
NC_000018.9:g.48604372_48604377del , CM000680.1:g.48604372_48604377del	GRCh37
NC_000018.8:g.46858370_46858375del	NCBI36
NG_013013.2:g.114963_114968del , LRG_318:g.114963_114968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1448-254_1448-249del	ENSP00000465878.2:n.1448-254_1448-249del
ENST00000589076.6:c.1448-254_1448-249del	ENSP00000466934.2:n.1448-254_1448-249del
ENST00000589941.2:c.1448-254_1448-249del	ENSP00000465874.2:n.1448-254_1448-249del
ENST00000590061.2:c.1448-254_1448-249del	ENSP00000464772.2:n.1448-254_1448-249del
ENST00000593223.2:c.*1191_*1196del	ENSP00000466118.2:n.*1191_*1196del
ENST00000611848.2:c.*100-254_*100-249del	ENSP00000478613.2:n.*100-254_*100-249del
ENST00000684953.1:n.3463-254_3463-249del
ENST00000685090.1:n.3124_3129del
ENST00000685232.1:n.1669-254_1669-249del
ENST00000688574.1:n.1556-254_1556-249del
ENST00000691124.1:n.4155_4160del
ENST00000342988.8:c.1448-254_1448-249del MANE Select	ENSP00000341551.3:n.1448-254_1448-249del
ENST00000342988.7:c.1448-254_1448-249del	ENSP00000341551.3:n.1448-254_1448-249del
ENST00000398417.6:c.1448-254_1448-249del	ENSP00000381452.1:n.1448-254_1448-249del
ENST00000586253.1:n.170-254_170-249del
ENST00000588745.5:c.1160-254_1160-249del	ENSP00000464901.1:n.1160-254_1160-249del
ENST00000591126.5:n.3449-254_3449-249del
ENST00000592186.5:c.1095-254_1095-249del	ENSP00000468611.1:n.1095-254_1095-249del
ENST00000611848.1:c.761-254_761-249del
NM_005359.5:c.1448-254_1448-249del , LRG_318t1:c.1448-254_1448-249del	NP_005350.1:n.1448-254_1448-249del
NM_005359.6:c.1448-254_1448-249del MANE Select	NP_005350.1:n.1448-254_1448-249del