Canonical Allele Identifier: CA432643525
Gene: COLQ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15470619_15470620insCCCCAACATTCCAGGAAATCCTGG , CM000665.2:g.15470619_15470620insCCCCAACATTCCAGGAAATCCTGG GRCh38
NC_000003.11:g.15512126_15512127insCCCCAACATTCCAGGAAATCCTGG , CM000665.1:g.15512126_15512127insCCCCAACATTCCAGGAAATCCTGG GRCh37
NC_000003.10:g.15487130_15487131insCCCCAACATTCCAGGAAATCCTGG NCBI36
NG_009032.1:g.56133_56134insCAGGATTTCCTGGAATGTTGGGGC
NG_009032.2:g.56133_56134insCAGGATTTCCTGGAATGTTGGGGC

Transcript Alleles

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