Canonical Allele Identifier: CA1424310382
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 2919034
ClinVar RCV Id: RCV003653109
dbSNP Id: rs1711686897
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659527_180659528del , CM000665.2:g.180659527_180659528del GRCh38
NC_000003.11:g.180377315_180377316del , CM000665.1:g.180377315_180377316del GRCh37
NC_000003.10:g.181860009_181860010del NCBI36
NG_029581.1:g.24968_24969del

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.662_663del MANE Select ENSP00000417960.2:p.Gln221ArgfsTer4
ENST00000650641.1:n.741_742del
ENST00000650889.1:n.834_835del
ENST00000651046.1:c.662_663del ENSP00000499175.1:p.Gln221ArgfsTer4
ENST00000651818.1:n.804_805del
ENST00000652024.1:n.753_754del
ENST00000652408.1:n.799_800del
ENST00000442201.6:c.662_663del ENSP00000405708.2:p.Gln221ArgfsTer4
ENST00000476379.5:c.662_663del ENSP00000417960.1:p.Gln221ArgfsTer4
NM_181426.1:c.662_663del NP_852091.1:p.Gln221ArgfsTer4
NM_181426.2:c.662_663del MANE Select NP_852091.1:p.Gln221ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'