Canonical Allele Identifier: CA88636295

Gene: CCDC39

Linked Data

• dbSNP Id: rs937309757
• gnomAD v4: 3-180659882-CT-C
• MyVariant Identifiers: chr3:g.180377671del (hg19) ; chr3:g.180659883del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659883del , CM000665.2:g.180659883del	GRCh38
NC_000003.11:g.180377671del , CM000665.1:g.180377671del	GRCh37
NC_000003.10:g.181860365del	NCBI36
NG_029581.1:g.24613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.517-114del MANE Select	ENSP00000417960.2:n.517-114del
ENST00000650641.1:n.596-114del
ENST00000650889.1:n.689-114del
ENST00000651046.1:c.517-114del	ENSP00000499175.1:n.517-114del
ENST00000651818.1:n.659-114del
ENST00000652024.1:n.608-114del
ENST00000652408.1:n.654-114del
ENST00000442201.6:c.517-114del	ENSP00000405708.2:n.517-114del
ENST00000476379.5:c.517-114del	ENSP00000417960.1:n.517-114del
NM_181426.1:c.517-114del	NP_852091.1:n.517-114del
NM_181426.2:c.517-114del MANE Select	NP_852091.1:n.517-114del