Canonical Allele Identifier: CA1347589302

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470686_15470699delinsGCCAGTCATTGGCT , CM000665.2:g.15470686_15470699delinsGCCAGTCATTGGCT	GRCh38
NC_000003.11:g.15512193_15512206delinsGCCAGTCATTGGCT , CM000665.1:g.15512193_15512206delinsGCCAGTCATTGGCT	GRCh37
NC_000003.10:g.15487197_15487210delinsGCCAGTCATTGGCT	NCBI36
NG_009032.1:g.56053_56066delinsAGCCAATGACTGGC
NG_009032.2:g.56053_56066delinsAGCCAATGACTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-83_637-70delinsAGCCAATGACTGGC MANE Select	ENSP00000373298.3:n.637-83_637-70delinsAGCCAATGACTGGC
ENST00000604401.2:n.633-83_633-70delinsAGCCAATGACTGGC
ENST00000679838.1:c.*399-83_*399-70delinsAGCCAATGACTGGC	ENSP00000505708.1:n.*399-83_*399-70delinsAGCCAATGACTGGC
ENST00000680545.1:n.403-83_403-70delinsAGCCAATGACTGGC
ENST00000681097.1:c.637-83_637-70delinsAGCCAATGACTGGC	ENSP00000505397.1:n.637-83_637-70delinsAGCCAATGACTGGC
ENST00000383781.8:c.607-83_607-70delinsAGCCAATGACTGGC	ENSP00000373291.3:n.607-83_607-70delinsAGCCAATGACTGGC
ENST00000383786.9:c.535-83_535-70delinsAGCCAATGACTGGC	ENSP00000373296.3:n.535-83_535-70delinsAGCCAATGACTGGC
ENST00000383788.9:c.637-83_637-70delinsAGCCAATGACTGGC	ENSP00000373298.3:n.637-83_637-70delinsAGCCAATGACTGGC
ENST00000603808.5:c.637-83_637-70delinsAGCCAATGACTGGC	ENSP00000474271.1:n.637-83_637-70delinsAGCCAATGACTGGC
ENST00000605797.1:c.466-83_466-70delinsAGCCAATGACTGGC	ENSP00000474936.1:n.466-83_466-70delinsAGCCAATGACTGGC
NM_005677.3:c.637-83_637-70delinsAGCCAATGACTGGC	NP_005668.2:n.637-83_637-70delinsAGCCAATGACTGGC
NM_080538.2:c.607-83_607-70delinsAGCCAATGACTGGC	NP_536799.1:n.607-83_607-70delinsAGCCAATGACTGGC
NM_080539.3:c.535-83_535-70delinsAGCCAATGACTGGC	NP_536800.2:n.535-83_535-70delinsAGCCAATGACTGGC
NM_005677.4:c.637-83_637-70delinsAGCCAATGACTGGC MANE Select	NP_005668.2:n.637-83_637-70delinsAGCCAATGACTGGC
NM_080539.4:c.535-83_535-70delinsAGCCAATGACTGGC	NP_536800.2:n.535-83_535-70delinsAGCCAATGACTGGC