Canonical Allele Identifier: CA1045356838

Gene: COLQ

Linked Data

• dbSNP Id: rs2062199416
• gnomAD v3: 3-15466344-CAGGTGGGGGGCCTGG-C
• gnomAD v4: 3-15466344-CAGGTGGGGGGCCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466345_15466359del , CM000665.2:g.15466345_15466359del	GRCh38
NC_000003.11:g.15507852_15507866del , CM000665.1:g.15507852_15507866del	GRCh37
NC_000003.10:g.15482856_15482870del	NCBI36
NG_009032.1:g.60393_60407del
NG_009032.2:g.60393_60407del

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.796_810del MANE Select	ENSP00000373298.3:p.Pro266_Pro270del
ENST00000604401.2:n.792_806del
ENST00000679838.1:c.*558_*572del	ENSP00000505708.1:n.*558_*572del
ENST00000680545.1:n.562_576del
ENST00000681097.1:c.796_810del	ENSP00000505397.1:p.Pro266_Pro270del
ENST00000383781.8:c.766_780del	ENSP00000373291.3:p.Pro256_Pro260del
ENST00000383786.9:c.694_708del	ENSP00000373296.3:p.Pro232_Pro236del
ENST00000383788.9:c.796_810del	ENSP00000373298.3:p.Pro266_Pro270del
ENST00000603808.5:c.796_810del	ENSP00000474271.1:p.Pro266_Pro270del
NM_005677.3:c.796_810del	NP_005668.2:p.Pro266_Pro270del
NM_080538.2:c.766_780del	NP_536799.1:p.Pro256_Pro260del
NM_080539.3:c.694_708del	NP_536800.2:p.Pro232_Pro236del
NM_005677.4:c.796_810del MANE Select	NP_005668.2:p.Pro266_Pro270del
NM_080539.4:c.694_708del	NP_536800.2:p.Pro232_Pro236del