Canonical Allele Identifier: CA2735214860
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs2144432875

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51059828del , CM000680.2:g.51059828del GRCh38
NC_000018.9:g.48586198del , CM000680.1:g.48586198del GRCh37
NC_000018.8:g.46840196del NCBI36
NG_013013.2:g.96789del , LRG_318:g.96789del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.905-38del ENSP00000465878.2:n.905-38del
ENST00000589076.6:c.905-38del ENSP00000466934.2:n.905-38del
ENST00000589941.2:c.905-38del ENSP00000465874.2:n.905-38del
ENST00000590061.2:c.905-38del ENSP00000464772.2:n.905-38del
ENST00000593223.2:c.905-38del ENSP00000466118.2:n.905-38del
ENST00000611848.2:c.905-38del ENSP00000478613.2:n.905-38del
ENST00000684953.1:n.2277-38del
ENST00000685090.1:n.1318del
ENST00000685232.1:n.1013-38del
ENST00000688307.1:n.156-38del
ENST00000688574.1:n.1013-38del
ENST00000688903.1:n.1119-38del
ENST00000690892.1:n.1013-38del
ENST00000342988.8:c.905-38del MANE Select ENSP00000341551.3:n.905-38del
ENST00000342988.7:c.905-38del ENSP00000341551.3:n.905-38del
ENST00000398417.6:c.905-38del ENSP00000381452.1:n.905-38del
ENST00000588745.5:c.667+4835del ENSP00000464901.1:n.667+4835del
ENST00000591126.5:n.2906-38del
ENST00000592186.5:c.905-38del ENSP00000468611.1:n.905-38del
ENST00000611848.1:c.105-38del
NM_005359.5:c.905-38del , LRG_318t1:c.905-38del NP_005350.1:n.905-38del
NM_005359.6:c.905-38del MANE Select NP_005350.1:n.905-38del