Canonical Allele Identifier: CA990246749
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs1909965785

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51060047_51060048insGC , CM000680.2:g.51060047_51060048insGC GRCh38
NC_000018.9:g.48586417_48586418insGC , CM000680.1:g.48586417_48586418insGC GRCh37
NC_000018.8:g.46840415_46840416insGC NCBI36
NG_013013.2:g.97008_97009insGC , LRG_318:g.97008_97009insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.955+131_955+132insGC ENSP00000465878.2:n.955+131_955+132insGC
ENST00000589076.6:c.955+131_955+132insGC ENSP00000466934.2:n.955+131_955+132insGC
ENST00000589941.2:c.955+131_955+132insGC ENSP00000465874.2:n.955+131_955+132insGC
ENST00000590061.2:c.955+131_955+132insGC ENSP00000464772.2:n.955+131_955+132insGC
ENST00000593223.2:c.955+131_955+132insGC ENSP00000466118.2:n.955+131_955+132insGC
ENST00000611848.2:c.955+131_955+132insGC ENSP00000478613.2:n.955+131_955+132insGC
ENST00000684953.1:n.2327+131_2327+132insGC
ENST00000685090.1:n.1406+131_1406+132insGC
ENST00000685232.1:n.1063+131_1063+132insGC
ENST00000688307.1:n.206+131_206+132insGC
ENST00000688574.1:n.1063+131_1063+132insGC
ENST00000688903.1:n.1169+131_1169+132insGC
ENST00000690892.1:n.1194_1195insGC
ENST00000342988.8:c.955+131_955+132insGC MANE Select ENSP00000341551.3:n.955+131_955+132insGC
ENST00000342988.7:c.955+131_955+132insGC ENSP00000341551.3:n.955+131_955+132insGC
ENST00000398417.6:c.955+131_955+132insGC ENSP00000381452.1:n.955+131_955+132insGC
ENST00000588745.5:c.667+5054_667+5055insGC ENSP00000464901.1:n.667+5054_667+5055insGC
ENST00000591126.5:n.2956+131_2956+132insGC
ENST00000592186.5:c.955+131_955+132insGC ENSP00000468611.1:n.955+131_955+132insGC
ENST00000611848.1:c.155+131_155+132insGC
NM_005359.5:c.955+131_955+132insGC , LRG_318t1:c.955+131_955+132insGC NP_005350.1:n.955+131_955+132insGC
NM_005359.6:c.955+131_955+132insGC MANE Select NP_005350.1:n.955+131_955+132insGC