Canonical Allele Identifier: CA2716136

Gene: CCDC39

Linked Data

• dbSNP Id: rs750976856
• ExAC: 3:180377484 G / GT
• gnomAD v2: 3-180377484-G-GT
• gnomAD v4: 3-180659696-G-GT
• MyVariant Identifiers: chr3:g.180377484_180377485insT (hg19) ; chr3:g.180659696_180659697insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659697dup , CM000665.2:g.180659697dup	GRCh38
NC_000003.11:g.180377485dup , CM000665.1:g.180377485dup	GRCh37
NC_000003.10:g.181860179dup	NCBI36
NG_029581.1:g.24799dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.589dup MANE Select	ENSP00000417960.2:p.Thr197AsnfsTer12
ENST00000650641.1:n.668dup
ENST00000650889.1:n.761dup
ENST00000651046.1:c.589dup	ENSP00000499175.1:p.Thr197AsnfsTer12
ENST00000651818.1:n.731dup
ENST00000652024.1:n.680dup
ENST00000652408.1:n.726dup
ENST00000442201.6:c.589dup	ENSP00000405708.2:p.Thr197AsnfsTer12
ENST00000476379.5:c.589dup	ENSP00000417960.1:p.Thr197AsnfsTer12
NM_181426.1:c.589dup	NP_852091.1:p.Thr197AsnfsTer12
NM_181426.2:c.589dup MANE Select	NP_852091.1:p.Thr197AsnfsTer12