Canonical Allele Identifier: CA16617855
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 423324
ClinVar RCV Id: RCV000483655
dbSNP Id: rs1064796360

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180642123del , CM000665.2:g.180642123del GRCh38
NC_000003.11:g.180359911del , CM000665.1:g.180359911del GRCh37
NC_000003.10:g.181842605del NCBI36
NG_029581.1:g.42373del

Transcript Alleles

HGVS Amino-acid change
ENST00000476379.6:c.1744del MANE Select ENSP00000417960.2:p.Val582PhefsTer4
ENST00000650641.1:n.1631del
ENST00000651046.1:c.1552del ENSP00000499175.1:p.Val518PhefsTer4
ENST00000651922.1:n.1069del
ENST00000652408.1:n.1881del
ENST00000442201.6:c.1744del ENSP00000405708.2:p.Val582PhefsTer4
ENST00000476379.5:c.1744del ENSP00000417960.1:p.Val582PhefsTer4
NM_181426.1:c.1744del NP_852091.1:p.Val582PhefsTer4
NM_181426.2:c.1744del MANE Select NP_852091.1:p.Val582PhefsTer4