Canonical Allele Identifier: CA2664634616

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470699-T-TAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470700_15470701insGA , CM000665.2:g.15470700_15470701insGA	GRCh38
NC_000003.11:g.15512207_15512208insGA , CM000665.1:g.15512207_15512208insGA	GRCh37
NC_000003.10:g.15487211_15487212insGA	NCBI36
NG_009032.1:g.56052_56053insCT
NG_009032.2:g.56052_56053insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-84_637-83insCT MANE Select	ENSP00000373298.3:n.637-84_637-83insCT
ENST00000604401.2:n.633-84_633-83insCT
ENST00000679838.1:c.*399-84_*399-83insCT	ENSP00000505708.1:n.*399-84_*399-83insCT
ENST00000680545.1:n.403-84_403-83insCT
ENST00000681097.1:c.637-84_637-83insCT	ENSP00000505397.1:n.637-84_637-83insCT
ENST00000383781.8:c.607-84_607-83insCT	ENSP00000373291.3:n.607-84_607-83insCT
ENST00000383786.9:c.535-84_535-83insCT	ENSP00000373296.3:n.535-84_535-83insCT
ENST00000383788.9:c.637-84_637-83insCT	ENSP00000373298.3:n.637-84_637-83insCT
ENST00000603808.5:c.637-84_637-83insCT	ENSP00000474271.1:n.637-84_637-83insCT
ENST00000605797.1:c.466-84_466-83insCT	ENSP00000474936.1:n.466-84_466-83insCT
NM_005677.3:c.637-84_637-83insCT	NP_005668.2:n.637-84_637-83insCT
NM_080538.2:c.607-84_607-83insCT	NP_536799.1:n.607-84_607-83insCT
NM_080539.3:c.535-84_535-83insCT	NP_536800.2:n.535-84_535-83insCT
NM_005677.4:c.637-84_637-83insCT MANE Select	NP_005668.2:n.637-84_637-83insCT
NM_080539.4:c.535-84_535-83insCT	NP_536800.2:n.535-84_535-83insCT