Canonical Allele Identifier: CA645609188

Gene: SMAD4

Linked Data

• COSMIC: COSM308194

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51076780_51076783del , CM000680.2:g.51076780_51076783del	GRCh38
NC_000018.9:g.48603150_48603153del , CM000680.1:g.48603150_48603153del	GRCh37
NC_000018.8:g.46857148_46857151del	NCBI36
NG_013013.2:g.113741_113744del , LRG_318:g.113741_113744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1447+4_1447+7del
ENST00000589076.6:c.1447+4_1447+7del
ENST00000589941.2:c.1447+4_1447+7del
ENST00000590061.2:c.1447+4_1447+7del
ENST00000593223.2:c.1451_1454del	ENSP00000466118.2:p.Lys484MetfsTer7
ENST00000611848.2:c.1447+4_1447+7del
ENST00000684953.1:n.2823_2826del
ENST00000685090.1:n.1902_1905del
ENST00000685232.1:n.1555+4_1555+7del
ENST00000688574.1:n.1555+4_1555+7del
ENST00000691124.1:n.2933_2936del
ENST00000342988.8:c.1447+4_1447+7del
ENST00000342988.7:c.1447+4_1447+7del
ENST00000398417.6:c.1447+4_1447+7del
ENST00000588745.5:c.1159+4_1159+7del
ENST00000590499.1:n.505+4_505+7del
ENST00000591126.5:n.3448+4_3448+7del
ENST00000592186.5:c.1094+4_1094+7del
ENST00000593223.1:c.218_221del	ENSP00000466118.1:p.Lys73MetfsTer7
ENST00000611848.1:c.647+4_647+7del
NM_005359.5:c.1447+4_1447+7del , LRG_318t1:c.1447+4_1447+7del
NM_005359.6:c.1447+4_1447+7del