Canonical Allele Identifier: CA299957
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 182867
ClinVar RCV Id: RCV000160956 RCV001054868 RCV003462106
dbSNP Id: rs730881952
MyVariant Identifiers: chr18:g.48593480_48593481del (hg19) chr18:g.51067110_51067111del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067110_51067111del , CM000680.2:g.51067110_51067111del GRCh38
NC_000018.9:g.48593480_48593481del , CM000680.1:g.48593480_48593481del GRCh37
NC_000018.8:g.46847478_46847479del NCBI36
NG_013013.2:g.104071_104072del , LRG_318:g.104071_104072del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1231_1232del ENSP00000465878.2:p.Ser411LeufsTer17
ENST00000589076.6:c.1231_1232del ENSP00000466934.2:p.Ser411LeufsTer17
ENST00000589941.2:c.1231_1232del ENSP00000465874.2:p.Ser411LeufsTer17
ENST00000590061.2:c.1231_1232del ENSP00000464772.2:p.Ser411LeufsTer17
ENST00000593223.2:c.1231_1232del ENSP00000466118.2:p.Ser411LeufsTer17
ENST00000611848.2:c.1231_1232del ENSP00000478613.2:p.Ser411LeufsTer17
ENST00000684953.1:n.2603_2604del
ENST00000685090.1:n.1682_1683del
ENST00000685232.1:n.1339_1340del
ENST00000688574.1:n.1339_1340del
ENST00000691124.1:n.2713_2714del
ENST00000342988.8:c.1231_1232del MANE Select ENSP00000341551.3:p.Ser411LeufsTer17
ENST00000342988.7:c.1231_1232del ENSP00000341551.3:p.Ser411LeufsTer17
ENST00000398417.6:c.1231_1232del ENSP00000381452.1:p.Ser411LeufsTer17
ENST00000588745.5:c.943_944del ENSP00000464901.1:p.Ser315LeufsTer17
ENST00000590499.1:n.289_290del
ENST00000591126.5:n.3232_3233del
ENST00000592186.5:c.955+7194_955+7195del ENSP00000468611.1:n.955+7194_955+7195del
ENST00000611848.1:c.431_432del
NM_005359.5:c.1231_1232del , LRG_318t1:c.1231_1232del NP_005350.1:p.Ser411LeufsTer17
NM_005359.6:c.1231_1232del MANE Select NP_005350.1:p.Ser411LeufsTer17
Search 100 bp 5'
Search 100 bp 3'