Canonical Allele Identifier: CA2499216558

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1069918
• ClinVar RCV Id: RCV001381912
• dbSNP Id: rs2125103406

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466357del , CM000665.2:g.15466357del	GRCh38
NC_000003.11:g.15507864del , CM000665.1:g.15507864del	GRCh37
NC_000003.10:g.15482868del	NCBI36
NG_009032.1:g.60395del
NG_009032.2:g.60395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.798del MANE Select	ENSP00000373298.3:p.Gly267AlafsTer9
ENST00000604401.2:n.794del
ENST00000679838.1:c.*560del	ENSP00000505708.1:n.*560del
ENST00000680545.1:n.564del
ENST00000681097.1:c.798del	ENSP00000505397.1:p.Gly267AlafsTer?
ENST00000383781.8:c.768del	ENSP00000373291.3:p.Gly257AlafsTer9
ENST00000383786.9:c.696del	ENSP00000373296.3:p.Gly233AlafsTer9
ENST00000383788.9:c.798del	ENSP00000373298.3:p.Gly267AlafsTer9
ENST00000603808.5:c.798del	ENSP00000474271.1:p.Gly267AlafsTer9
NM_005677.3:c.798del	NP_005668.2:p.Gly267AlafsTer9
NM_080538.2:c.768del	NP_536799.1:p.Gly257AlafsTer9
NM_080539.3:c.696del	NP_536800.2:p.Gly233AlafsTer9
NM_005677.4:c.798del MANE Select	NP_005668.2:p.Gly267AlafsTer9
NM_080539.4:c.696del	NP_536800.2:p.Gly233AlafsTer9