Canonical Allele Identifier: CA345274
Gene: CCDC39 HGNC NCBI
gnomAD v2:
3:180337121 CT / C
gnomAD v3:
3:180619333 CT / C
gnomAD v4:
chr3-180619333-CT-C
Joint Max Group AF 0.0000091 (NFE)
Genomes Max Group AF 0.00000489 (NFE)
Exomes Max Group AF 0.00000841 (NFE)
ClinVar RCV:
RCV000056197
RCV000815017
ClinVar Variation:
65950
dbSNP:
587778820
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180619335del , CM000665.2:g.180619335del GRCh38
NC_000003.11:g.180337123del , CM000665.1:g.180337123del GRCh37
NC_000003.10:g.181819817del NCBI36
NG_029581.1:g.65162del

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.2190del MANE Select ENSP00000417960.2:p.Glu731AsnfsTer?
ENST00000650641.1:n.2077del
ENST00000651046.1:c.1998del ENSP00000499175.1:p.Glu667AsnfsTer?
ENST00000651922.1:n.1515del
ENST00000652010.1:n.2266del
ENST00000652408.1:n.2327del
ENST00000442201.6:c.2190del ENSP00000405708.2:p.Glu731AsnfsTer?
ENST00000476379.5:c.*14del ENSP00000417960.1:n.*14del
NM_181426.1:c.2190del NP_852091.1:p.Glu731AsnfsTer?
NM_181426.2:c.2190del MANE Select NP_852091.1:p.Glu731AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'