Canonical Allele Identifier: CA1045358592

Gene: COLQ

Linked Data

• gnomAD v3: 3-15470643-G-GTTTTTTA
• gnomAD v4: 3-15470643-G-GTTTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470643_15470644insTTTTTTA , CM000665.2:g.15470643_15470644insTTTTTTA	GRCh38
NC_000003.11:g.15512150_15512151insTTTTTTA , CM000665.1:g.15512150_15512151insTTTTTTA	GRCh37
NC_000003.10:g.15487154_15487155insTTTTTTA	NCBI36
NG_009032.1:g.56108_56109insTAAAAAA
NG_009032.2:g.56108_56109insTAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-28_637-27insTAAAAAA MANE Select	ENSP00000373298.3:n.637-28_637-27insTAAAAAA
ENST00000604401.2:n.633-28_633-27insTAAAAAA
ENST00000679838.1:c.*399-28_*399-27insTAAAAAA	ENSP00000505708.1:n.*399-28_*399-27insTAAAAAA
ENST00000680545.1:n.403-28_403-27insTAAAAAA
ENST00000681097.1:c.637-28_637-27insTAAAAAA	ENSP00000505397.1:n.637-28_637-27insTAAAAAA
ENST00000383781.8:c.607-28_607-27insTAAAAAA	ENSP00000373291.3:n.607-28_607-27insTAAAAAA
ENST00000383786.9:c.535-28_535-27insTAAAAAA	ENSP00000373296.3:n.535-28_535-27insTAAAAAA
ENST00000383788.9:c.637-28_637-27insTAAAAAA	ENSP00000373298.3:n.637-28_637-27insTAAAAAA
ENST00000603808.5:c.637-28_637-27insTAAAAAA	ENSP00000474271.1:n.637-28_637-27insTAAAAAA
ENST00000605797.1:c.466-28_466-27insTAAAAAA	ENSP00000474936.1:n.466-28_466-27insTAAAAAA
NM_005677.3:c.637-28_637-27insTAAAAAA	NP_005668.2:n.637-28_637-27insTAAAAAA
NM_080538.2:c.607-28_607-27insTAAAAAA	NP_536799.1:n.607-28_607-27insTAAAAAA
NM_080539.3:c.535-28_535-27insTAAAAAA	NP_536800.2:n.535-28_535-27insTAAAAAA
NM_005677.4:c.637-28_637-27insTAAAAAA MANE Select	NP_005668.2:n.637-28_637-27insTAAAAAA
NM_080539.4:c.535-28_535-27insTAAAAAA	NP_536800.2:n.535-28_535-27insTAAAAAA