Canonical Allele Identifier: CA2840608823

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470568dup , CM000665.2:g.15470568dup	GRCh38
NC_000003.11:g.15512075dup , CM000665.1:g.15512075dup	GRCh37
NC_000003.10:g.15487079dup	NCBI36
NG_009032.1:g.56186dup
NG_009032.2:g.56186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.687dup MANE Select	ENSP00000373298.3:p.Thr230HisfsTer16
ENST00000604401.2:n.683dup
ENST00000679838.1:c.*449dup	ENSP00000505708.1:n.*449dup
ENST00000680545.1:n.453dup
ENST00000681097.1:c.687dup	ENSP00000505397.1:p.Thr230HisfsTer16
ENST00000383781.8:c.657dup	ENSP00000373291.3:p.Thr220HisfsTer16
ENST00000383786.9:c.585dup	ENSP00000373296.3:p.Thr196HisfsTer16
ENST00000383788.9:c.687dup	ENSP00000373298.3:p.Thr230HisfsTer16
ENST00000603808.5:c.687dup	ENSP00000474271.1:p.Thr230HisfsTer16
ENST00000605797.1:c.516dup	ENSP00000474936.1:p.Thr173HisfsTer16
NM_005677.3:c.687dup	NP_005668.2:p.Thr230HisfsTer16
NM_080538.2:c.657dup	NP_536799.1:p.Thr220HisfsTer16
NM_080539.3:c.585dup	NP_536800.2:p.Thr196HisfsTer16
NM_005677.4:c.687dup MANE Select	NP_005668.2:p.Thr230HisfsTer16
NM_080539.4:c.585dup	NP_536800.2:p.Thr196HisfsTer16