Canonical Allele Identifier: CA10647797
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 327164
dbSNP Id: rs374333786

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51083054_51083057del , CM000680.2:g.51083054_51083057del GRCh38
NC_000018.9:g.48609424_48609427del , CM000680.1:g.48609424_48609427del GRCh37
NC_000018.8:g.46863422_46863425del NCBI36
NG_013013.2:g.120015_120018del , LRG_318:g.120015_120018del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.*4587_*4590del ENSP00000465878.2:n.*4587_*4590del
ENST00000589076.6:c.*4587_*4590del ENSP00000466934.2:n.*4587_*4590del
ENST00000589941.2:c.*4587_*4590del ENSP00000465874.2:n.*4587_*4590del
ENST00000590061.2:c.*4587_*4590del ENSP00000464772.2:n.*4587_*4590del
ENST00000688574.1:n.6354_6357del
ENST00000342988.8:c.*4587_*4590del MANE Select ENSP00000341551.3:n.*4587_*4590del
ENST00000342988.7:c.*4587_*4590del ENSP00000341551.3:n.*4587_*4590del
ENST00000398417.6:c.*4587_*4590del ENSP00000381452.1:n.*4587_*4590del
NM_005359.5:c.*4587_*4590del , LRG_318t1:c.*4587_*4590del NP_005350.1:n.*4587_*4590del
NM_005359.6:c.*4587_*4590del MANE Select NP_005350.1:n.*4587_*4590del