Canonical Allele Identifier: CA2716141

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 817471
• ClinVar RCV Id: RCV001008601 ; RCV001243147
• dbSNP Id: rs758482424
• ExAC: 3:180377525 CAA / C
• gnomAD v2: 3-180377525-CAA-C
• gnomAD v3: 3-180659737-CAA-C
• gnomAD v4: 3-180659737-CAA-C
• MyVariant Identifiers: chr3:g.180377526_180377527del (hg19) ; chr3:g.180659738_180659739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659739_180659740del , CM000665.2:g.180659739_180659740del	GRCh38
NC_000003.11:g.180377527_180377528del , CM000665.1:g.180377527_180377528del	GRCh37
NC_000003.10:g.181860221_181860222del	NCBI36
NG_029581.1:g.24757_24758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.547_548del MANE Select	ENSP00000417960.2:p.Leu183GlyfsTer3
ENST00000650641.1:n.626_627del
ENST00000650889.1:n.719_720del
ENST00000651046.1:c.547_548del	ENSP00000499175.1:p.Leu183GlyfsTer3
ENST00000651818.1:n.689_690del
ENST00000652024.1:n.638_639del
ENST00000652408.1:n.684_685del
ENST00000442201.6:c.547_548del	ENSP00000405708.2:p.Leu183GlyfsTer3
ENST00000476379.5:c.547_548del	ENSP00000417960.1:p.Leu183GlyfsTer3
NM_181426.1:c.547_548del	NP_852091.1:p.Leu183GlyfsTer3
NM_181426.2:c.547_548del MANE Select	NP_852091.1:p.Leu183GlyfsTer3