Canonical Allele Identifier: CA2664661469

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466340-CCTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466341_15466345del , CM000665.2:g.15466341_15466345del	GRCh38
NC_000003.11:g.15507848_15507852del , CM000665.1:g.15507848_15507852del	GRCh37
NC_000003.10:g.15482852_15482856del	NCBI36
NG_009032.1:g.60407_60411del
NG_009032.2:g.60407_60411del

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.810_814del MANE Select	ENSP00000373298.3:p.Ala271ThrfsTer29
ENST00000604401.2:n.806_810del
ENST00000679838.1:c.*572_*576del	ENSP00000505708.1:n.*572_*576del
ENST00000680545.1:n.576_580del
ENST00000681097.1:c.810_814del	ENSP00000505397.1:p.Ala271PhefsTer13
ENST00000383781.8:c.780_784del	ENSP00000373291.3:p.Ala261ThrfsTer29
ENST00000383786.9:c.708_712del	ENSP00000373296.3:p.Ala237ThrfsTer29
ENST00000383788.9:c.810_814del	ENSP00000373298.3:p.Ala271ThrfsTer29
ENST00000603808.5:c.810_814del	ENSP00000474271.1:p.Ala271ThrfsTer29
NM_005677.3:c.810_814del	NP_005668.2:p.Ala271ThrfsTer29
NM_080538.2:c.780_784del	NP_536799.1:p.Ala261ThrfsTer29
NM_080539.3:c.708_712del	NP_536800.2:p.Ala237ThrfsTer29
NM_005677.4:c.810_814del MANE Select	NP_005668.2:p.Ala271ThrfsTer29
NM_080539.4:c.708_712del	NP_536800.2:p.Ala237ThrfsTer29