Canonical Allele Identifier: CA903357812

Gene: CCDC39

Linked Data

• dbSNP Id: rs1224728422
• gnomAD v3: 3-180659477-TCC-T
• gnomAD v4: 3-180659477-TCC-T
• MyVariant Identifiers: chr3:g.180377266_180377267del (hg19) ; chr3:g.180659478_180659479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659479_180659480del , CM000665.2:g.180659479_180659480del	GRCh38
NC_000003.11:g.180377267_180377268del , CM000665.1:g.180377267_180377268del	GRCh37
NC_000003.10:g.181859961_181859962del	NCBI36
NG_029581.1:g.25017_25018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.711_712del MANE Select	ENSP00000417960.2:p.Asp238TrpfsTer5
ENST00000650641.1:n.790_791del
ENST00000650889.1:n.883_884del
ENST00000651046.1:c.711_712del	ENSP00000499175.1:p.Asp238TrpfsTer5
ENST00000651818.1:n.853_854del
ENST00000652024.1:n.802_803del
ENST00000652408.1:n.848_849del
ENST00000442201.6:c.711_712del	ENSP00000405708.2:p.Asp238TrpfsTer5
ENST00000476379.5:c.711_712del	ENSP00000417960.1:p.Asp238TrpfsTer5
NM_181426.1:c.711_712del	NP_852091.1:p.Asp238TrpfsTer5
NM_181426.2:c.711_712del MANE Select	NP_852091.1:p.Asp238TrpfsTer5