Canonical Allele Identifier: CA1347587521

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466451_15466452delinsAG , CM000665.2:g.15466451_15466452delinsAG	GRCh38
NC_000003.11:g.15507958_15507959delinsAG , CM000665.1:g.15507958_15507959delinsAG	GRCh37
NC_000003.10:g.15482962_15482963delinsAG	NCBI36
NG_009032.1:g.60300_60301delinsCT
NG_009032.2:g.60300_60301delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.718-15_718-14delinsCT MANE Select	ENSP00000373298.3:n.718-15_718-14delinsCT...
ENST00000604401.2:n.714-15_714-14delinsCT
ENST00000679838.1:c.*480-15_*480-14delinsCT	ENSP00000505708.1:n.*480-15_*480-14delins...
ENST00000680545.1:n.484-15_484-14delinsCT
ENST00000681097.1:c.718-15_718-14delinsCT	ENSP00000505397.1:n.718-15_718-14delinsCT...
ENST00000383781.8:c.688-15_688-14delinsCT	ENSP00000373291.3:n.688-15_688-14delinsCT...
ENST00000383786.9:c.616-15_616-14delinsCT	ENSP00000373296.3:n.616-15_616-14delinsCT...
ENST00000383788.9:c.718-15_718-14delinsCT	ENSP00000373298.3:n.718-15_718-14delinsCT...
ENST00000603808.5:c.718-15_718-14delinsCT	ENSP00000474271.1:n.718-15_718-14delinsCT...
ENST00000605797.1:c.547-15_547-14delinsCT	ENSP00000474936.1:n.547-15_547-14delinsCT...
NM_005677.3:c.718-15_718-14delinsCT	NP_005668.2:n.718-15_718-14delinsCT
NM_080538.2:c.688-15_688-14delinsCT	NP_536799.1:n.688-15_688-14delinsCT
NM_080539.3:c.616-15_616-14delinsCT	NP_536800.2:n.616-15_616-14delinsCT
NM_005677.4:c.718-15_718-14delinsCT MANE Select	NP_005668.2:n.718-15_718-14delinsCT
NM_080539.4:c.616-15_616-14delinsCT	NP_536800.2:n.616-15_616-14delinsCT