Canonical Allele Identifier: CA1347593107

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479311_15479312delinsAG , CM000665.2:g.15479311_15479312delinsAG	GRCh38
NC_000003.11:g.15520818_15520819delinsAG , CM000665.1:g.15520818_15520819delinsAG	GRCh37
NC_000003.10:g.15495822_15495823delinsAG	NCBI36
NG_009032.1:g.47440_47441delinsCT
NG_009032.2:g.47440_47441delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.366+26_366+27delinsCT MANE Select	ENSP00000373298.3:n.366+26_366+27delinsCT
ENST00000679838.1:c.*128+26_*128+27delinsCT	ENSP00000505708.1:n.*128+26_*128+27delinsCT
ENST00000681097.1:c.366+26_366+27delinsCT	ENSP00000505397.1:n.366+26_366+27delinsCT
ENST00000383781.8:c.336+26_336+27delinsCT	ENSP00000373291.3:n.336+26_336+27delinsCT
ENST00000383786.9:c.264+26_264+27delinsCT	ENSP00000373296.3:n.264+26_264+27delinsCT
ENST00000383788.9:c.366+26_366+27delinsCT	ENSP00000373298.3:n.366+26_366+27delinsCT
ENST00000603469.1:n.37+26_37+27delinsCT
ENST00000603808.5:c.366+26_366+27delinsCT	ENSP00000474271.1:n.366+26_366+27delinsCT
ENST00000605797.1:c.195+26_195+27delinsCT	ENSP00000474936.1:n.195+26_195+27delinsCT
NM_005677.3:c.366+26_366+27delinsCT	NP_005668.2:n.366+26_366+27delinsCT
NM_080538.2:c.336+26_336+27delinsCT	NP_536799.1:n.336+26_336+27delinsCT
NM_080539.3:c.264+26_264+27delinsCT	NP_536800.2:n.264+26_264+27delinsCT
NM_005677.4:c.366+26_366+27delinsCT MANE Select	NP_005668.2:n.366+26_366+27delinsCT
NM_080539.4:c.264+26_264+27delinsCT	NP_536800.2:n.264+26_264+27delinsCT