Canonical Allele Identifier: CA1056965819

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 2832087
• ClinVar RCV Id: RCV003651204
• dbSNP Id: rs1711686356
• gnomAD v3: 3-180659520-T-TTA
• gnomAD v4: 3-180659520-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659520_180659521insTA , CM000665.2:g.180659520_180659521insTA	GRCh38
NC_000003.11:g.180377308_180377309insTA , CM000665.1:g.180377308_180377309insTA	GRCh37
NC_000003.10:g.181860002_181860003insTA	NCBI36
NG_029581.1:g.24975_24976insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.669_670insTA MANE Select	ENSP00000417960.2:p.Ile224Ter
ENST00000650641.1:n.748_749insTA
ENST00000650889.1:n.841_842insTA
ENST00000651046.1:c.669_670insTA	ENSP00000499175.1:p.Ile224Ter
ENST00000651818.1:n.811_812insTA
ENST00000652024.1:n.760_761insTA
ENST00000652408.1:n.806_807insTA
ENST00000442201.6:c.669_670insTA	ENSP00000405708.2:p.Ile224Ter
ENST00000476379.5:c.669_670insTA	ENSP00000417960.1:p.Ile224Ter
NM_181426.1:c.669_670insTA	NP_852091.1:p.Ile224Ter
NM_181426.2:c.669_670insTA MANE Select	NP_852091.1:p.Ile224Ter