Canonical Allele Identifier: CA10651795
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 327192
ClinVar RCV Id: RCV000290910 RCV000329490 RCV000382958
dbSNP Id: rs56017493
gnomAD v3: 18-51084012-G-GCACACACACACACA
gnomAD v4: 18-51084012-G-GCACACACACACACA
MyVariant Identifiers: chr18:g.48610401_48610414dupCACACACACACACA (hg19) chr18:g.48610414_48610415insCACACACACACACA (hg19) chr18:g.48610382_48610383insCACACACACACACA (hg19) chr18:g.51084031_51084044dupCACACACACACACA (hg38) chr18:g.51084044_51084045insCACACACACACACA (hg38) chr18:g.51084012_51084013insCACACACACACACA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51084031_51084044dup , CM000680.2:g.51084031_51084044dup GRCh38
NC_000018.9:g.48610401_48610414dup , CM000680.1:g.48610401_48610414dup GRCh37
NC_000018.8:g.46864399_46864412dup NCBI36
NG_013013.2:g.120992_121005dup , LRG_318:g.120992_121005dup

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.*5564_*5577dup ENSP00000465878.2:n.*5564_*5577dup
ENST00000589076.6:c.*5564_*5577dup ENSP00000466934.2:n.*5564_*5577dup
ENST00000589941.2:c.*5564_*5577dup ENSP00000465874.2:n.*5564_*5577dup
ENST00000590061.2:c.*5564_*5577dup ENSP00000464772.2:n.*5564_*5577dup
ENST00000688574.1:n.7331_7344dup
ENST00000342988.8:c.*5564_*5577dup MANE Select ENSP00000341551.3:n.*5564_*5577dup
ENST00000342988.7:c.*5564_*5577dup ENSP00000341551.3:n.*5564_*5577dup
ENST00000398417.6:c.*5564_*5577dup ENSP00000381452.1:n.*5564_*5577dup
NM_005359.5:c.*5564_*5577dup , LRG_318t1:c.*5564_*5577dup NP_005350.1:n.*5564_*5577dup
NM_005359.6:c.*5564_*5577dup MANE Select NP_005350.1:n.*5564_*5577dup
Search 100 bp 5'
Search 100 bp 3'