Canonical Allele Identifier: CA915132015
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs1561121815
gnomAD v2: 5-54529099-CGGGCAGGGGGCTACCACCCCGCGCCGCAGAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233276_55233306del , CM000667.2:g.55233276_55233306del GRCh38
NC_000005.9:g.54529104_54529134del , CM000667.1:g.54529104_54529134del GRCh37
NC_000005.8:g.54564861_54564891del NCBI36
NG_034201.1:g.5416_5446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.222_252del MANE Select ENSP00000282572.4:p.Ser75AlafsTer9
ENST00000282572.4:c.222_252del ENSP00000282572.4:p.Ser75AlafsTer9
ENST00000501463.2:c.222_252del ENSP00000422485.1:p.Ser75AlafsTer9
NM_021147.4:c.222_252del NP_066970.3:p.Ser75AlafsTer9
NR_125346.1:n.416_446del
NR_125347.1:n.416_446del
NM_021147.5:c.222_252del MANE Select NP_066970.3:p.Ser75AlafsTer9
NR_125346.2:n.307_337del
NR_125347.2:n.307_337del
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