Canonical Allele Identifier: CA901004664

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15456537_15456543del , CM000665.2:g.15456537_15456543del	GRCh38
NC_000003.11:g.15498044_15498050del , CM000665.1:g.15498044_15498050del	GRCh37
NC_000003.10:g.15473048_15473054del	NCBI36
NG_009032.1:g.70210_70216del
NG_009032.2:g.70210_70216del

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.992_998del MANE Select	NP_005668.2:p.Leu331ProfsTer27
ENST00000383788.10:c.992_998del MANE Select	ENSP00000373298.3:p.Leu331ProfsTer27
NM_005677.3:c.992_998del	NP_005668.2:p.Leu331ProfsTer27
NM_080538.2:c.962_968del	NP_536799.1:p.Leu321ProfsTer27
NM_080539.3:c.890_896del	NP_536800.2:p.Leu297ProfsTer27
NM_080539.4:c.890_896del	NP_536800.2:p.Leu297ProfsTer27
ENST00000383781.8:c.962_968del	ENSP00000373291.3:p.Leu321ProfsTer27
ENST00000383786.9:c.890_896del	ENSP00000373296.3:p.Leu297ProfsTer27
ENST00000383788.9:c.992_998del	ENSP00000373298.3:p.Leu331ProfsTer27
ENST00000603808.5:c.992_998del	ENSP00000474271.1:p.Leu331ProfsTer27
ENST00000604401.2:n.848_854del
ENST00000679838.1:c.*754_*760del	ENSP00000505708.1:n.*754_*760del
ENST00000680240.1:n.904_910del
ENST00000680545.1:n.758_764del
ENST00000681097.1:c.*6_*12del	ENSP00000505397.1:n.*6_*12del
ENST00000681222.1:n.4483_4489del