Canonical Allele Identifier: CA1045358608

Gene: COLQ

Linked Data

• gnomAD v3: 3-15470662-AGTGG-A
• gnomAD v4: 3-15470662-AGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470664_15470667del , CM000665.2:g.15470664_15470667del	GRCh38
NC_000003.11:g.15512171_15512174del , CM000665.1:g.15512171_15512174del	GRCh37
NC_000003.10:g.15487175_15487178del	NCBI36
NG_009032.1:g.56086_56089del
NG_009032.2:g.56086_56089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-50_637-47del MANE Select	ENSP00000373298.3:n.637-50_637-47del
ENST00000604401.2:n.633-50_633-47del
ENST00000679838.1:c.*399-50_*399-47del	ENSP00000505708.1:n.*399-50_*399-47del
ENST00000680545.1:n.403-50_403-47del
ENST00000681097.1:c.637-50_637-47del	ENSP00000505397.1:n.637-50_637-47del
ENST00000383781.8:c.607-50_607-47del	ENSP00000373291.3:n.607-50_607-47del
ENST00000383786.9:c.535-50_535-47del	ENSP00000373296.3:n.535-50_535-47del
ENST00000383788.9:c.637-50_637-47del	ENSP00000373298.3:n.637-50_637-47del
ENST00000603808.5:c.637-50_637-47del	ENSP00000474271.1:n.637-50_637-47del
ENST00000605797.1:c.466-50_466-47del	ENSP00000474936.1:n.466-50_466-47del
NM_005677.3:c.637-50_637-47del	NP_005668.2:n.637-50_637-47del
NM_080538.2:c.607-50_607-47del	NP_536799.1:n.607-50_607-47del
NM_080539.3:c.535-50_535-47del	NP_536800.2:n.535-50_535-47del
NM_005677.4:c.637-50_637-47del MANE Select	NP_005668.2:n.637-50_637-47del
NM_080539.4:c.535-50_535-47del	NP_536800.2:n.535-50_535-47del