Canonical Allele Identifier: CA2302978103
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs1909967487

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51060099_51060101del , CM000680.2:g.51060099_51060101del GRCh38
NC_000018.9:g.48586469_48586471del , CM000680.1:g.48586469_48586471del GRCh37
NC_000018.8:g.46840467_46840469del NCBI36
NG_013013.2:g.97060_97062del , LRG_318:g.97060_97062del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.955+183_955+185del ENSP00000465878.2:n.955+183_955+185del
ENST00000589076.6:c.955+183_955+185del ENSP00000466934.2:n.955+183_955+185del
ENST00000589941.2:c.955+183_955+185del ENSP00000465874.2:n.955+183_955+185del
ENST00000590061.2:c.955+183_955+185del ENSP00000464772.2:n.955+183_955+185del
ENST00000593223.2:c.955+183_955+185del ENSP00000466118.2:n.955+183_955+185del
ENST00000611848.2:c.955+183_955+185del ENSP00000478613.2:n.955+183_955+185del
ENST00000684953.1:n.2327+183_2327+185del
ENST00000685090.1:n.1406+183_1406+185del
ENST00000685232.1:n.1063+183_1063+185del
ENST00000688307.1:n.206+183_206+185del
ENST00000688574.1:n.1063+183_1063+185del
ENST00000688903.1:n.1169+183_1169+185del
ENST00000342988.8:c.955+183_955+185del MANE Select ENSP00000341551.3:n.955+183_955+185del
ENST00000342988.7:c.955+183_955+185del ENSP00000341551.3:n.955+183_955+185del
ENST00000398417.6:c.955+183_955+185del ENSP00000381452.1:n.955+183_955+185del
ENST00000588745.5:c.667+5106_667+5108del ENSP00000464901.1:n.667+5106_667+5108del
ENST00000591126.5:n.2956+183_2956+185del
ENST00000592186.5:c.955+183_955+185del ENSP00000468611.1:n.955+183_955+185del
ENST00000611848.1:c.155+183_155+185del
NM_005359.5:c.955+183_955+185del , LRG_318t1:c.955+183_955+185del NP_005350.1:n.955+183_955+185del
NM_005359.6:c.955+183_955+185del MANE Select NP_005350.1:n.955+183_955+185del