Canonical Allele Identifier: CA1056965832
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 942739
ClinVar RCV Id: RCV001212776
dbSNP Id: rs1711686691
gnomAD v3: 3-180659523-GTTC-G
gnomAD v4: 3-180659523-GTTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659526_180659528del , CM000665.2:g.180659526_180659528del GRCh38
NC_000003.11:g.180377314_180377316del , CM000665.1:g.180377314_180377316del GRCh37
NC_000003.10:g.181860008_181860010del NCBI36
NG_029581.1:g.24970_24972del

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.664_666del MANE Select ENSP00000417960.2:p.Glu222del
ENST00000650641.1:n.743_745del
ENST00000650889.1:n.836_838del
ENST00000651046.1:c.664_666del ENSP00000499175.1:p.Glu222del
ENST00000651818.1:n.806_808del
ENST00000652024.1:n.755_757del
ENST00000652408.1:n.801_803del
ENST00000442201.6:c.664_666del ENSP00000405708.2:p.Glu222del
ENST00000476379.5:c.664_666del ENSP00000417960.1:p.Glu222del
NM_181426.1:c.664_666del NP_852091.1:p.Glu222del
NM_181426.2:c.664_666del MANE Select NP_852091.1:p.Glu222del
Search 100 bp 5'
Search 100 bp 3'