Canonical Allele Identifier: CA2664634618

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470700-A-AGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470700_15470701insGAC , CM000665.2:g.15470700_15470701insGAC	GRCh38
NC_000003.11:g.15512207_15512208insGAC , CM000665.1:g.15512207_15512208insGAC	GRCh37
NC_000003.10:g.15487211_15487212insGAC	NCBI36
NG_009032.1:g.56051_56052insGTC
NG_009032.2:g.56051_56052insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-85_637-84insGTC MANE Select	ENSP00000373298.3:n.637-85_637-84insGTC
ENST00000604401.2:n.633-85_633-84insGTC
ENST00000679838.1:c.*399-85_*399-84insGTC	ENSP00000505708.1:n.*399-85_*399-84insGTC
ENST00000680545.1:n.403-85_403-84insGTC
ENST00000681097.1:c.637-85_637-84insGTC	ENSP00000505397.1:n.637-85_637-84insGTC
ENST00000383781.8:c.607-85_607-84insGTC	ENSP00000373291.3:n.607-85_607-84insGTC
ENST00000383786.9:c.535-85_535-84insGTC	ENSP00000373296.3:n.535-85_535-84insGTC
ENST00000383788.9:c.637-85_637-84insGTC	ENSP00000373298.3:n.637-85_637-84insGTC
ENST00000603808.5:c.637-85_637-84insGTC	ENSP00000474271.1:n.637-85_637-84insGTC
ENST00000605797.1:c.466-85_466-84insGTC	ENSP00000474936.1:n.466-85_466-84insGTC
NM_005677.3:c.637-85_637-84insGTC	NP_005668.2:n.637-85_637-84insGTC
NM_080538.2:c.607-85_607-84insGTC	NP_536799.1:n.607-85_607-84insGTC
NM_080539.3:c.535-85_535-84insGTC	NP_536800.2:n.535-85_535-84insGTC
NM_005677.4:c.637-85_637-84insGTC MANE Select	NP_005668.2:n.637-85_637-84insGTC
NM_080539.4:c.535-85_535-84insGTC	NP_536800.2:n.535-85_535-84insGTC