Canonical Allele Identifier: CA163290

Gene: CCNO

Linked Data

• ClinVar Variation Id: 139600
• ClinVar RCV Id: RCV000128541 ; RCV000548995 ; RCV000598772
• dbSNP Id: rs587777499
• ExAC: 5:54529089 T / TGGGCC
• gnomAD v2: 5-54529089-T-TGGGCC
• gnomAD v3: 5-55233261-T-TGGGCC
• gnomAD v4: 5-55233261-T-TGGGCC
• MyVariant Identifiers: chr5:g.54529090_54529094dupGGGCC (hg19) ; chr5:g.54529094_54529095insGGGCC (hg19) ; chr5:g.54529089_54529090insGGGCC (hg19) ; chr5:g.55233262_55233266dupGGGCC (hg38) ; chr5:g.55233266_55233267insGGGCC (hg38) ; chr5:g.55233261_55233262insGGGCC (hg38)
• PubMed: PMID:20301301 ; PMID:24747639 ; PMID:24824133

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55233271_55233275dup , CM000667.2:g.55233271_55233275dup	GRCh38
NC_000005.9:g.54529099_54529103dup , CM000667.1:g.54529099_54529103dup	GRCh37
NC_000005.8:g.54564856_54564860dup	NCBI36
NG_034201.1:g.5452_5456dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282572.5:c.258_262dup MANE Select	ENSP00000282572.4:p.Gln88ArgfsTer8
ENST00000282572.4:c.258_262dup	ENSP00000282572.4:p.Gln88ArgfsTer8
ENST00000501463.2:c.258_262dup	ENSP00000422485.1:p.Gln88ArgfsTer8
NM_021147.4:c.258_262dup	NP_066970.3:p.Gln88ArgfsTer8
NR_125346.1:n.452_456dup
NR_125347.1:n.452_456dup
NM_021147.5:c.258_262dup MANE Select	NP_066970.3:p.Gln88ArgfsTer8
NR_125346.2:n.343_347dup
NR_125347.2:n.343_347dup