Canonical Allele Identifier: CA2716123

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 2890596
• ClinVar RCV Id: RCV003650129
• dbSNP Id: rs765786501
• ExAC: 3:180377372 TCAAA / T
• gnomAD v2: 3-180377372-TCAAA-T
• gnomAD v4: 3-180659584-TCAAA-T
• MyVariant Identifiers: chr3:g.180377373_180377376del (hg19) ; chr3:g.180659585_180659588del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659587_180659590del , CM000665.2:g.180659587_180659590del	GRCh38
NC_000003.11:g.180377375_180377378del , CM000665.1:g.180377375_180377378del	GRCh37
NC_000003.10:g.181860069_181860072del	NCBI36
NG_029581.1:g.24908_24911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.610-8_610-5del MANE Select	ENSP00000417960.2:n.610-8_610-5del
ENST00000650641.1:n.689-8_689-5del
ENST00000650889.1:n.782-8_782-5del
ENST00000651046.1:c.610-8_610-5del	ENSP00000499175.1:n.610-8_610-5del
ENST00000651818.1:n.752-8_752-5del
ENST00000652024.1:n.701-8_701-5del
ENST00000652408.1:n.747-8_747-5del
ENST00000442201.6:c.610-8_610-5del	ENSP00000405708.2:n.610-8_610-5del
ENST00000476379.5:c.610-8_610-5del	ENSP00000417960.1:n.610-8_610-5del
NM_181426.1:c.610-8_610-5del	NP_852091.1:n.610-8_610-5del
NM_181426.2:c.610-8_610-5del MANE Select	NP_852091.1:n.610-8_610-5del