Canonical Allele Identifier: CA2716071

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 242176
• ClinVar RCV Id: RCV000226980 ; RCV000779402 ; RCV001008126
• dbSNP Id: rs773801386
• ExAC: 3:180372648 CTG / C
• gnomAD v2: 3-180372648-CTG-C
• gnomAD v3: 3-180654860-CTG-C
• gnomAD v4: 3-180654860-CTG-C
• MyVariant Identifiers: chr3:g.180372649_180372650del (hg19) ; chr3:g.180654862_180654863del (hg38) ; chr3:g.180654861_180654862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180654864_180654865del , CM000665.2:g.180654864_180654865del	GRCh38
NC_000003.11:g.180372652_180372653del , CM000665.1:g.180372652_180372653del	GRCh37
NC_000003.10:g.181855346_181855347del	NCBI36
NG_029581.1:g.29634_29635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.830_831del MANE Select	ENSP00000417960.2:p.Thr277ArgfsTer3
ENST00000650641.1:n.818-2596_818-2595del
ENST00000650889.1:n.1002_1003del
ENST00000651046.1:c.739-2596_739-2595del	ENSP00000499175.1:n.739-2596_739-2595del
ENST00000651818.1:n.881-2596_881-2595del
ENST00000652024.1:n.830-2596_830-2595del
ENST00000652408.1:n.967_968del
ENST00000442201.6:c.830_831del	ENSP00000405708.2:p.Thr277ArgfsTer3
ENST00000476379.5:c.830_831del	ENSP00000417960.1:p.Thr277ArgfsTer3
NM_181426.1:c.830_831del	NP_852091.1:p.Thr277ArgfsTer3
NM_181426.2:c.830_831del MANE Select	NP_852091.1:p.Thr277ArgfsTer3