Canonical Allele Identifier: CA163296

Gene: CCNO

Linked Data

• ClinVar Variation Id: 139603
• ClinVar RCV Id: RCV000128544 ; RCV000527185
• dbSNP Id: rs587777502
• gnomAD v2: 5-54529084-C-CGGGCT
• gnomAD v3: 5-55233256-C-CGGGCT
• gnomAD v4: 5-55233256-C-CGGGCT
• MyVariant Identifiers: chr5:g.54529085_54529089dupGGGCT (hg19) ; chr5:g.54529089_54529090insGGGCT (hg19) ; chr5:g.54529084_54529085insGGGCT (hg19) ; chr5:g.55233257_55233261dupGGGCT (hg38) ; chr5:g.55233261_55233262insGGGCT (hg38) ; chr5:g.55233256_55233257insGGGCT (hg38)
• PubMed: PMID:20301301 ; PMID:24747639

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55233261_55233265dup , CM000667.2:g.55233261_55233265dup	GRCh38
NC_000005.9:g.54529089_54529093dup , CM000667.1:g.54529089_54529093dup	GRCh37
NC_000005.8:g.54564846_54564850dup	NCBI36
NG_034201.1:g.5457_5461dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.263_267dup MANE Select	ENSP00000282572.4:p.Val90SerfsTer6
ENST00000282572.4:c.263_267dup	ENSP00000282572.4:p.Val90SerfsTer6
ENST00000501463.2:c.263_267dup	ENSP00000422485.1:p.Val90SerfsTer6
NM_021147.4:c.263_267dup	NP_066970.3:p.Val90SerfsTer6
NR_125346.1:n.457_461dup
NR_125347.1:n.457_461dup
NM_021147.5:c.263_267dup MANE Select	NP_066970.3:p.Val90SerfsTer6
NR_125346.2:n.348_352dup
NR_125347.2:n.348_352dup