Canonical Allele Identifier: CA548337187

Gene: CCDC39

Linked Data

• dbSNP Id: rs1174959434
• gnomAD v2: 3-180377350-CT-C
• gnomAD v4: 3-180659562-CT-C
• MyVariant Identifiers: chr3:g.180377351del (hg19) ; chr3:g.180659563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659563del , CM000665.2:g.180659563del	GRCh38
NC_000003.11:g.180377351del , CM000665.1:g.180377351del	GRCh37
NC_000003.10:g.181860045del	NCBI36
NG_029581.1:g.24933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.627del MANE Select	ENSP00000417960.2:p.Ala210HisfsTer22
ENST00000650641.1:n.706del
ENST00000650889.1:n.799del
ENST00000651046.1:c.627del	ENSP00000499175.1:p.Ala210HisfsTer22
ENST00000651818.1:n.769del
ENST00000652024.1:n.718del
ENST00000652408.1:n.764del
ENST00000442201.6:c.627del	ENSP00000405708.2:p.Ala210HisfsTer22
ENST00000476379.5:c.627del	ENSP00000417960.1:p.Ala210HisfsTer22
NM_181426.1:c.627del	NP_852091.1:p.Ala210HisfsTer22
NM_181426.2:c.627del MANE Select	NP_852091.1:p.Ala210HisfsTer22