Canonical Allele Identifier: CA259200
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 24825
ClinVar RCV Id: RCV002228050
dbSNP Id: rs377767343

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51065504del , CM000680.2:g.51065504del GRCh38
NC_000018.9:g.48591874del , CM000680.1:g.48591874del GRCh37
NC_000018.8:g.46845872del NCBI36
NG_013013.2:g.102465del , LRG_318:g.102465del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1037del ENSP00000465878.2:p.Pro346LeufsTer?
ENST00000589076.6:c.1037del ENSP00000466934.2:p.Pro346LeufsTer?
ENST00000589941.2:c.1037del ENSP00000465874.2:p.Pro346LeufsTer?
ENST00000590061.2:c.1037del ENSP00000464772.2:p.Pro346LeufsTer?
ENST00000593223.2:c.1037del ENSP00000466118.2:p.Pro346LeufsTer?
ENST00000611848.2:c.1037del ENSP00000478613.2:p.Pro346LeufsTer?
ENST00000684953.1:n.2409del
ENST00000685090.1:n.1488del
ENST00000685232.1:n.1145del
ENST00000688307.1:n.288del
ENST00000688574.1:n.1145del
ENST00000688903.1:n.1251del
ENST00000691124.1:n.2519del
ENST00000342988.8:c.1037del MANE Select ENSP00000341551.3:p.Pro346LeufsTer?
ENST00000342988.7:c.1037del ENSP00000341551.3:p.Pro346LeufsTer?
ENST00000398417.6:c.1037del ENSP00000381452.1:p.Pro346LeufsTer?
ENST00000588745.5:c.749del ENSP00000464901.1:p.Pro250LeufsTer?
ENST00000591126.5:n.3038del
ENST00000592186.5:c.955+5588del ENSP00000468611.1:n.955+5588del
ENST00000611848.1:c.237del
NM_005359.5:c.1037del , LRG_318t1:c.1037del NP_005350.1:p.Pro346LeufsTer?
NM_005359.6:c.1037del MANE Select NP_005350.1:p.Pro346LeufsTer?