Canonical Allele Identifier: CA2577521853

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470562del , CM000665.2:g.15470562del	GRCh38
NC_000003.11:g.15512069del , CM000665.1:g.15512069del	GRCh37
NC_000003.10:g.15487073del	NCBI36
NG_009032.1:g.56191del
NG_009032.2:g.56191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.692del MANE Select	ENSP00000373298.3:p.Gly231GlufsTer?
ENST00000604401.2:n.688del
ENST00000679838.1:c.*454del	ENSP00000505708.1:n.*454del
ENST00000680545.1:n.458del
ENST00000681097.1:c.692del	ENSP00000505397.1:p.Gly231GlufsTer?
ENST00000383781.8:c.662del	ENSP00000373291.3:p.Gly221GlufsTer?
ENST00000383786.9:c.590del	ENSP00000373296.3:p.Gly197GlufsTer?
ENST00000383788.9:c.692del	ENSP00000373298.3:p.Gly231GlufsTer?
ENST00000603808.5:c.692del	ENSP00000474271.1:p.Gly231GlufsTer?
ENST00000605797.1:c.521del	ENSP00000474936.1:p.Gly174GlufsTer?
NM_005677.3:c.692del	NP_005668.2:p.Gly231GlufsTer?
NM_080538.2:c.662del	NP_536799.1:p.Gly221GlufsTer?
NM_080539.3:c.590del	NP_536800.2:p.Gly197GlufsTer?
NM_005677.4:c.692del MANE Select	NP_005668.2:p.Gly231GlufsTer?
NM_080539.4:c.590del	NP_536800.2:p.Gly197GlufsTer?