Canonical Allele Identifier: CA548337198

Gene: CCDC39

Linked Data

• dbSNP Id: rs1378642220
• gnomAD v2: 3-180377533-GTCTT-G
• gnomAD v3: 3-180659745-GTCTT-G
• gnomAD v4: 3-180659745-GTCTT-G
• MyVariant Identifiers: chr3:g.180377534_180377537del (hg19) ; chr3:g.180659746_180659749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659749_180659752del , CM000665.2:g.180659749_180659752del	GRCh38
NC_000003.11:g.180377537_180377540del , CM000665.1:g.180377537_180377540del	GRCh37
NC_000003.10:g.181860231_181860234del	NCBI36
NG_029581.1:g.24747_24750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.537_540del MANE Select	ENSP00000417960.2:p.Glu179AspfsTer2
ENST00000650641.1:n.616_619del
ENST00000650889.1:n.709_712del
ENST00000651046.1:c.537_540del	ENSP00000499175.1:p.Glu179AspfsTer2
ENST00000651818.1:n.679_682del
ENST00000652024.1:n.628_631del
ENST00000652408.1:n.674_677del
ENST00000442201.6:c.537_540del	ENSP00000405708.2:p.Glu179AspfsTer2
ENST00000476379.5:c.537_540del	ENSP00000417960.1:p.Glu179AspfsTer2
NM_181426.1:c.537_540del	NP_852091.1:p.Glu179AspfsTer2
NM_181426.2:c.537_540del MANE Select	NP_852091.1:p.Glu179AspfsTer2