Canonical Allele Identifier: CA1347593096

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479277_15479278delinsGC , CM000665.2:g.15479277_15479278delinsGC	GRCh38
NC_000003.11:g.15520784_15520785delinsGC , CM000665.1:g.15520784_15520785delinsGC	GRCh37
NC_000003.10:g.15495788_15495789delinsGC	NCBI36
NG_009032.1:g.47474_47475delinsGC
NG_009032.2:g.47474_47475delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.366+60_366+61delinsGC MANE Select	ENSP00000373298.3:n.366+60_366+61delinsGC
ENST00000679838.1:c.*128+60_*128+61delinsGC	ENSP00000505708.1:n.*128+60_*128+61delinsGC
ENST00000681097.1:c.366+60_366+61delinsGC	ENSP00000505397.1:n.366+60_366+61delinsGC
ENST00000383781.8:c.336+60_336+61delinsGC	ENSP00000373291.3:n.336+60_336+61delinsGC
ENST00000383786.9:c.264+60_264+61delinsGC	ENSP00000373296.3:n.264+60_264+61delinsGC
ENST00000383788.9:c.366+60_366+61delinsGC	ENSP00000373298.3:n.366+60_366+61delinsGC
ENST00000603469.1:n.37+60_37+61delinsGC
ENST00000603808.5:c.366+60_366+61delinsGC	ENSP00000474271.1:n.366+60_366+61delinsGC
ENST00000605797.1:c.195+60_195+61delinsGC	ENSP00000474936.1:n.195+60_195+61delinsGC
NM_005677.3:c.366+60_366+61delinsGC	NP_005668.2:n.366+60_366+61delinsGC
NM_080538.2:c.336+60_336+61delinsGC	NP_536799.1:n.336+60_336+61delinsGC
NM_080539.3:c.264+60_264+61delinsGC	NP_536800.2:n.264+60_264+61delinsGC
NM_005677.4:c.366+60_366+61delinsGC MANE Select	NP_005668.2:n.366+60_366+61delinsGC
NM_080539.4:c.264+60_264+61delinsGC	NP_536800.2:n.264+60_264+61delinsGC