Canonical Allele Identifier: CA1347587467

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466344_15466359delinsCAGGTGGGGGGCCTGG , CM000665.2:g.15466344_15466359delinsCAGGTGGGGGGCCTGG	GRCh38
NC_000003.11:g.15507851_15507866delinsCAGGTGGGGGGCCTGG , CM000665.1:g.15507851_15507866delinsCAGGTGGGGGGCCTGG	GRCh37
NC_000003.10:g.15482855_15482870delinsCAGGTGGGGGGCCTGG	NCBI36
NG_009032.1:g.60393_60408delinsCCAGGCCCCCCACCTG
NG_009032.2:g.60393_60408delinsCCAGGCCCCCCACCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.796_811delinsCCAGGCCCCCCACCTG MANE Select	ENSP00000373298.3:p.Pro266=
ENST00000604401.2:n.792_807delinsCCAGGCCCCCCACCTG
ENST00000679838.1:c.*558_*573delinsCCAGGCCCCCCACCTG	ENSP00000505708.1:n.*558_*573delinsCCAGGC...
ENST00000680545.1:n.562_577delinsCCAGGCCCCCCACCTG
ENST00000681097.1:c.796_811delinsCCAGGCCCCCCACCTG	ENSP00000505397.1:p.Pro266=
ENST00000383781.8:c.766_781delinsCCAGGCCCCCCACCTG	ENSP00000373291.3:p.Pro256=
ENST00000383786.9:c.694_709delinsCCAGGCCCCCCACCTG	ENSP00000373296.3:p.Pro232=
ENST00000383788.9:c.796_811delinsCCAGGCCCCCCACCTG	ENSP00000373298.3:p.Pro266=
ENST00000603808.5:c.796_811delinsCCAGGCCCCCCACCTG	ENSP00000474271.1:p.Pro266=
NM_005677.3:c.796_811delinsCCAGGCCCCCCACCTG	NP_005668.2:p.Pro266=
NM_080538.2:c.766_781delinsCCAGGCCCCCCACCTG	NP_536799.1:p.Pro256=
NM_080539.3:c.694_709delinsCCAGGCCCCCCACCTG	NP_536800.2:p.Pro232=
NM_005677.4:c.796_811delinsCCAGGCCCCCCACCTG MANE Select	NP_005668.2:p.Pro266=
NM_080539.4:c.694_709delinsCCAGGCCCCCCACCTG	NP_536800.2:p.Pro232=