Canonical Allele Identifier: CA2511504247

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51077979_51077999del , CM000680.2:g.51077979_51077999del	GRCh38
NC_000018.9:g.48604349_48604369del , CM000680.1:g.48604349_48604369del	GRCh37
NC_000018.8:g.46858347_46858367del	NCBI36
NG_013013.2:g.114940_114960del , LRG_318:g.114940_114960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1448-277_1448-257del	ENSP00000465878.2:n.1448-277_1448-257del
ENST00000589076.6:c.1448-277_1448-257del	ENSP00000466934.2:n.1448-277_1448-257del
ENST00000589941.2:c.1448-277_1448-257del	ENSP00000465874.2:n.1448-277_1448-257del
ENST00000590061.2:c.1448-277_1448-257del	ENSP00000464772.2:n.1448-277_1448-257del
ENST00000593223.2:c.*1168_*1188del	ENSP00000466118.2:n.*1168_*1188del
ENST00000611848.2:c.*100-277_*100-257del	ENSP00000478613.2:n.*100-277_*100-257del
ENST00000684953.1:n.3463-277_3463-257del
ENST00000685090.1:n.3101_3121del
ENST00000685232.1:n.1669-277_1669-257del
ENST00000688574.1:n.1556-277_1556-257del
ENST00000691124.1:n.4132_4152del
ENST00000342988.8:c.1448-277_1448-257del MANE Select	ENSP00000341551.3:n.1448-277_1448-257del
ENST00000342988.7:c.1448-277_1448-257del	ENSP00000341551.3:n.1448-277_1448-257del
ENST00000398417.6:c.1448-277_1448-257del	ENSP00000381452.1:n.1448-277_1448-257del
ENST00000586253.1:n.170-277_170-257del
ENST00000588745.5:c.1160-277_1160-257del	ENSP00000464901.1:n.1160-277_1160-257del
ENST00000591126.5:n.3449-277_3449-257del
ENST00000592186.5:c.1095-277_1095-257del	ENSP00000468611.1:n.1095-277_1095-257del
ENST00000611848.1:c.761-277_761-257del
NM_005359.5:c.1448-277_1448-257del , LRG_318t1:c.1448-277_1448-257del	NP_005350.1:n.1448-277_1448-257del
NM_005359.6:c.1448-277_1448-257del MANE Select	NP_005350.1:n.1448-277_1448-257del