Canonical Allele Identifier: CA559800468
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs1214270680
gnomAD v2: 5-54528920-TG-T
gnomAD v4: 5-55233092-TG-T
MyVariant Identifiers: chr5:g.54528921del (hg19) chr5:g.55233093del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233095del , CM000667.2:g.55233095del GRCh38
NC_000005.9:g.54528923del , CM000667.1:g.54528923del GRCh37
NC_000005.8:g.54564680del NCBI36
NG_034201.1:g.5625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.381+50del MANE Select ENSP00000282572.4:n.381+50del
ENST00000282572.4:c.381+50del ENSP00000282572.4:n.381+50del
ENST00000501463.2:c.*35del ENSP00000422485.1:n.*35del
NM_021147.4:c.381+50del NP_066970.3:n.381+50del
NR_125346.1:n.625del
NR_125347.1:n.580+45del
NM_021147.5:c.381+50del MANE Select NP_066970.3:n.381+50del
NR_125346.2:n.516del
NR_125347.2:n.471+45del
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