Canonical Allele Identifier: CA2275972

Gene: COLQ

Linked Data

• ClinVar Variation Id: 6653
• ClinVar RCV Id: RCV000007032
• dbSNP Id: rs759911990
• ExAC: 3:15507873 C / CG
• gnomAD v2: 3-15507873-C-CG
• gnomAD v3: 3-15466366-C-CG
• gnomAD v4: 3-15466366-C-CG
• MyVariant Identifiers: chr3:g.15507874dupG (hg19) ; chr3:g.15507873_15507874insG (hg19) ; chr3:g.15466367dupG (hg38) ; chr3:g.15466366_15466367insG (hg38)
• PubMed: PMID:9689136

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466368dup , CM000665.2:g.15466368dup	GRCh38
NC_000003.11:g.15507875dup , CM000665.1:g.15507875dup	GRCh37
NC_000003.10:g.15482879dup	NCBI36
NG_009032.1:g.60385dup
NG_009032.2:g.60385dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.788dup MANE Select	ENSP00000373298.3:p.Pro265AlafsTer?
ENST00000604401.2:n.784dup
ENST00000679838.1:c.*550dup	ENSP00000505708.1:n.*550dup
ENST00000680545.1:n.554dup
ENST00000681097.1:c.788dup	ENSP00000505397.1:p.Pro265AlafsTer21
ENST00000383781.8:c.758dup	ENSP00000373291.3:p.Pro255AlafsTer?
ENST00000383786.9:c.686dup	ENSP00000373296.3:p.Pro231AlafsTer?
ENST00000383788.9:c.788dup	ENSP00000373298.3:p.Pro265AlafsTer?
ENST00000603808.5:c.788dup	ENSP00000474271.1:p.Pro265AlafsTer?
NM_005677.3:c.788dup	NP_005668.2:p.Pro265AlafsTer?
NM_080538.2:c.758dup	NP_536799.1:p.Pro255AlafsTer?
NM_080539.3:c.686dup	NP_536800.2:p.Pro231AlafsTer?
NM_005677.4:c.788dup MANE Select	NP_005668.2:p.Pro265AlafsTer?
NM_080539.4:c.686dup	NP_536800.2:p.Pro231AlafsTer?