Canonical Allele Identifier: CA548337188

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 525300
• ClinVar RCV Id: RCV000629353 ; RCV002507056
• dbSNP Id: rs1415346246
• gnomAD v2: 3-180377364-TCTAA-T
• gnomAD v4: 3-180659576-TCTAA-T
• MyVariant Identifiers: chr3:g.180377365_180377368del (hg19) ; chr3:g.180659577_180659580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659579_180659582del , CM000665.2:g.180659579_180659582del	GRCh38
NC_000003.11:g.180377367_180377370del , CM000665.1:g.180377367_180377370del	GRCh37
NC_000003.10:g.181860061_181860064del	NCBI36
NG_029581.1:g.24916_24919del

Transcript Alleles

HGVS	Amino-acid change
ENST00000476379.6:c.610_613del
ENST00000650641.1:n.689_692del
ENST00000650889.1:n.782_785del
ENST00000651046.1:c.610_613del
ENST00000651818.1:n.752_755del
ENST00000652024.1:n.701_704del
ENST00000652408.1:n.747_750del
ENST00000442201.6:c.610_613del
ENST00000476379.5:c.610_613del
NM_181426.1:c.610_613del
NM_181426.2:c.610_613del