Canonical Allele Identifier: CA2716101

Gene: CCDC39

Linked Data

• dbSNP Id: rs762298858
• ExAC: 3:180377257 TG / T
• gnomAD v2: 3-180377257-TG-T
• gnomAD v4: 3-180659469-TG-T
• MyVariant Identifiers: chr3:g.180377258del (hg19) ; chr3:g.180659470del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659470del , CM000665.2:g.180659470del	GRCh38
NC_000003.11:g.180377258del , CM000665.1:g.180377258del	GRCh37
NC_000003.10:g.181859952del	NCBI36
NG_029581.1:g.25026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.720del MANE Select	ENSP00000417960.2:p.Asp240GlufsTer2
ENST00000650641.1:n.799del
ENST00000650889.1:n.892del
ENST00000651046.1:c.720del	ENSP00000499175.1:p.Asp240GlufsTer2
ENST00000651818.1:n.862del
ENST00000652024.1:n.811del
ENST00000652408.1:n.857del
ENST00000442201.6:c.720del	ENSP00000405708.2:p.Asp240GlufsTer2
ENST00000476379.5:c.720del	ENSP00000417960.1:p.Asp240GlufsTer2
NM_181426.1:c.720del	NP_852091.1:p.Asp240GlufsTer2
NM_181426.2:c.720del MANE Select	NP_852091.1:p.Asp240GlufsTer2