Canonical Allele Identifier: CA10650965
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 327130
ClinVar RCV Id: RCV000288263 RCV000345613 RCV000384872
dbSNP Id: rs886053903
gnomAD v2: 18-48606397-GATAA-G
gnomAD v3: 18-51080027-GATAA-G
gnomAD v4: 18-51080027-GATAA-G
MyVariant Identifiers: chr18:g.48606401_48606404del (hg19) chr18:g.48606398_48606401del (hg19) chr18:g.51080031_51080034del (hg38) chr18:g.51080028_51080031del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51080031_51080034del , CM000680.2:g.51080031_51080034del GRCh38
NC_000018.9:g.48606401_48606404del , CM000680.1:g.48606401_48606404del GRCh37
NC_000018.8:g.46860399_46860402del NCBI36
NG_013013.2:g.116992_116995del , LRG_318:g.116992_116995del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.*1564_*1567del ENSP00000465878.2:n.*1564_*1567del
ENST00000589076.6:c.*1564_*1567del ENSP00000466934.2:n.*1564_*1567del
ENST00000589941.2:c.*1564_*1567del ENSP00000465874.2:n.*1564_*1567del
ENST00000590061.2:c.*1564_*1567del ENSP00000464772.2:n.*1564_*1567del
ENST00000688574.1:n.3331_3334del
ENST00000342988.8:c.*1564_*1567del MANE Select ENSP00000341551.3:n.*1564_*1567del
ENST00000342988.7:c.*1564_*1567del ENSP00000341551.3:n.*1564_*1567del
ENST00000398417.6:c.*1564_*1567del ENSP00000381452.1:n.*1564_*1567del
NM_005359.5:c.*1564_*1567del , LRG_318t1:c.*1564_*1567del NP_005350.1:n.*1564_*1567del
NM_005359.6:c.*1564_*1567del MANE Select NP_005350.1:n.*1564_*1567del
Search 100 bp 5'
Search 100 bp 3'