Canonical Allele Identifier: CA559800450
Gene: CCNO HGNC NCBI

Linked Data

ClinVar Variation Id: 1514336
ClinVar RCV Id: RCV002029239
dbSNP Id: rs1554020078
gnomAD v2: 5-54529089-T-TGGGCCGGGCCGGGCA
gnomAD v3: 5-55233261-T-TGGGCCGGGCCGGGCA
gnomAD v4: 5-55233261-T-TGGGCCGGGCCGGGCA
MyVariant Identifiers: chr5:g.54529089_54529090insGGGCCGGGCCGGGCA (hg19) chr5:g.55233261_55233262insGGGCCGGGCCGGGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233265_55233279dup , CM000667.2:g.55233265_55233279dup GRCh38
NC_000005.9:g.54529093_54529107dup , CM000667.1:g.54529093_54529107dup GRCh37
NC_000005.8:g.54564850_54564864dup NCBI36
NG_034201.1:g.5442_5456dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.248_262dup MANE Select ENSP00000282572.4:p.Ala87_Gln88insLeuProGlyProAla
ENST00000282572.4:c.248_262dup ENSP00000282572.4:p.Ala87_Gln88insLeuProGlyProAla
ENST00000501463.2:c.248_262dup ENSP00000422485.1:p.Ala87_Gln88insLeuProGlyProAla
NM_021147.4:c.248_262dup NP_066970.3:p.Ala87_Gln88insLeuProGlyProAla
NR_125346.1:n.442_456dup
NR_125347.1:n.442_456dup
NM_021147.5:c.248_262dup MANE Select NP_066970.3:p.Ala87_Gln88insLeuProGlyProAla
NR_125346.2:n.333_347dup
NR_125347.2:n.333_347dup
Search 100 bp 5'
Search 100 bp 3'