Canonical Allele Identifier: CA1347589267

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470626_15470627delinsAG , CM000665.2:g.15470626_15470627delinsAG	GRCh38
NC_000003.11:g.15512133_15512134delinsAG , CM000665.1:g.15512133_15512134delinsAG	GRCh37
NC_000003.10:g.15487137_15487138delinsAG	NCBI36
NG_009032.1:g.56125_56126delinsCT
NG_009032.2:g.56125_56126delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.637-11_637-10delinsCT MANE Select	ENSP00000373298.3:n.637-11_637-10delinsCT...
ENST00000604401.2:n.633-11_633-10delinsCT
ENST00000679838.1:c.*399-11_*399-10delinsCT	ENSP00000505708.1:n.*399-11_*399-10delins...
ENST00000680545.1:n.403-11_403-10delinsCT
ENST00000681097.1:c.637-11_637-10delinsCT	ENSP00000505397.1:n.637-11_637-10delinsCT...
ENST00000383781.8:c.607-11_607-10delinsCT	ENSP00000373291.3:n.607-11_607-10delinsCT...
ENST00000383786.9:c.535-11_535-10delinsCT	ENSP00000373296.3:n.535-11_535-10delinsCT...
ENST00000383788.9:c.637-11_637-10delinsCT	ENSP00000373298.3:n.637-11_637-10delinsCT...
ENST00000603808.5:c.637-11_637-10delinsCT	ENSP00000474271.1:n.637-11_637-10delinsCT...
ENST00000605797.1:c.466-11_466-10delinsCT	ENSP00000474936.1:n.466-11_466-10delinsCT...
NM_005677.3:c.637-11_637-10delinsCT	NP_005668.2:n.637-11_637-10delinsCT
NM_080538.2:c.607-11_607-10delinsCT	NP_536799.1:n.607-11_607-10delinsCT
NM_080539.3:c.535-11_535-10delinsCT	NP_536800.2:n.535-11_535-10delinsCT
NM_005677.4:c.637-11_637-10delinsCT MANE Select	NP_005668.2:n.637-11_637-10delinsCT
NM_080539.4:c.535-11_535-10delinsCT	NP_536800.2:n.535-11_535-10delinsCT