Canonical Allele Identifier: CA1347593076

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479227_15479229delinsCAG , CM000665.2:g.15479227_15479229delinsCAG	GRCh38
NC_000003.11:g.15520734_15520736delinsCAG , CM000665.1:g.15520734_15520736delinsCAG	GRCh37
NC_000003.10:g.15495738_15495740delinsCAG	NCBI36
NG_009032.1:g.47523_47525delinsCTG
NG_009032.2:g.47523_47525delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.366+109_366+111delinsCTG MANE Select	ENSP00000373298.3:n.366+109_366+111delinsCTG
ENST00000679838.1:c.*128+109_*128+111delinsCTG	ENSP00000505708.1:n.*128+109_*128+111delinsCTG
ENST00000681097.1:c.366+109_366+111delinsCTG	ENSP00000505397.1:n.366+109_366+111delinsCTG
ENST00000383781.8:c.336+109_336+111delinsCTG	ENSP00000373291.3:n.336+109_336+111delinsCTG
ENST00000383786.9:c.264+109_264+111delinsCTG	ENSP00000373296.3:n.264+109_264+111delinsCTG
ENST00000383788.9:c.366+109_366+111delinsCTG	ENSP00000373298.3:n.366+109_366+111delinsCTG
ENST00000603469.1:n.37+109_37+111delinsCTG
ENST00000603808.5:c.366+109_366+111delinsCTG	ENSP00000474271.1:n.366+109_366+111delinsCTG
ENST00000605797.1:c.195+109_195+111delinsCTG	ENSP00000474936.1:n.195+109_195+111delinsCTG
NM_005677.3:c.366+109_366+111delinsCTG	NP_005668.2:n.366+109_366+111delinsCTG
NM_080538.2:c.336+109_336+111delinsCTG	NP_536799.1:n.336+109_336+111delinsCTG
NM_080539.3:c.264+109_264+111delinsCTG	NP_536800.2:n.264+109_264+111delinsCTG
NM_005677.4:c.366+109_366+111delinsCTG MANE Select	NP_005668.2:n.366+109_366+111delinsCTG
NM_080539.4:c.264+109_264+111delinsCTG	NP_536800.2:n.264+109_264+111delinsCTG