Canonical Allele Identifier: CA2586971754

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466348-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466354dup , CM000665.2:g.15466354dup	GRCh38
NC_000003.11:g.15507861dup , CM000665.1:g.15507861dup	GRCh37
NC_000003.10:g.15482865dup	NCBI36
NG_009032.1:g.60403dup
NG_009032.2:g.60403dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.806dup MANE Select	ENSP00000373298.3:p.Pro270ThrfsTer?
ENST00000604401.2:n.802dup
ENST00000679838.1:c.*568dup	ENSP00000505708.1:n.*568dup
ENST00000680545.1:n.572dup
ENST00000681097.1:c.806dup	ENSP00000505397.1:p.Pro270ThrfsTer16
ENST00000383781.8:c.776dup	ENSP00000373291.3:p.Pro260ThrfsTer?
ENST00000383786.9:c.704dup	ENSP00000373296.3:p.Pro236ThrfsTer?
ENST00000383788.9:c.806dup	ENSP00000373298.3:p.Pro270ThrfsTer?
ENST00000603808.5:c.806dup	ENSP00000474271.1:p.Pro270ThrfsTer?
NM_005677.3:c.806dup	NP_005668.2:p.Pro270ThrfsTer?
NM_080538.2:c.776dup	NP_536799.1:p.Pro260ThrfsTer?
NM_080539.3:c.704dup	NP_536800.2:p.Pro236ThrfsTer?
NM_005677.4:c.806dup MANE Select	NP_005668.2:p.Pro270ThrfsTer?
NM_080539.4:c.704dup	NP_536800.2:p.Pro236ThrfsTer?