Canonical Allele Identifier: CA2577522137

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15521532del , CM000665.2:g.15521532del	GRCh38
NC_000003.11:g.15563039del , CM000665.1:g.15563039del	GRCh37
NC_000003.10:g.15538043del	NCBI36
NG_009032.1:g.5221del
NG_009032.2:g.5221del

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.95del MANE Select	NP_005668.2:p.Pro32GlnfsTer23
ENST00000383788.10:c.95del MANE Select	ENSP00000373298.3:p.Pro32GlnfsTer23
NM_005677.3:c.95del	NP_005668.2:p.Pro32GlnfsTer23
NM_080539.3:c.95del	NP_536800.2:p.Pro32GlnfsTer23
NM_080539.4:c.95del	NP_536800.2:p.Pro32GlnfsTer23
ENST00000383786.9:c.95del	ENSP00000373296.3:p.Pro32GlnfsTer23
ENST00000383788.9:c.95del	ENSP00000373298.3:p.Pro32GlnfsTer23
ENST00000603808.5:c.95del	ENSP00000474271.1:p.Pro32GlnfsTer23
ENST00000679838.1:c.95del	ENSP00000505708.1:p.Pro32GlnfsTer23
ENST00000681097.1:c.95del	ENSP00000505397.1:p.Pro32GlnfsTer23