Canonical Allele Identifier: CA901014565

Gene: COLQ

Linked Data

• dbSNP Id: rs1339873594
• gnomAD v3: 3-15466357-TG-T
• gnomAD v4: 3-15466357-TG-T
• MyVariant Identifiers: chr3:g.15507865del (hg19) ; chr3:g.15466358del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466362del , CM000665.2:g.15466362del	GRCh38
NC_000003.11:g.15507869del , CM000665.1:g.15507869del	GRCh37
NC_000003.10:g.15482873del	NCBI36
NG_009032.1:g.60394del
NG_009032.2:g.60394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.797del MANE Select	ENSP00000373298.3:p.Pro266GlnfsTer10
ENST00000604401.2:n.793del
ENST00000679838.1:c.*559del	ENSP00000505708.1:n.*559del
ENST00000680545.1:n.563del
ENST00000681097.1:c.797del	ENSP00000505397.1:p.Pro266GlnfsTer?
ENST00000383781.8:c.767del	ENSP00000373291.3:p.Pro256GlnfsTer10
ENST00000383786.9:c.695del	ENSP00000373296.3:p.Pro232GlnfsTer10
ENST00000383788.9:c.797del	ENSP00000373298.3:p.Pro266GlnfsTer10
ENST00000603808.5:c.797del	ENSP00000474271.1:p.Pro266GlnfsTer10
NM_005677.3:c.797del	NP_005668.2:p.Pro266GlnfsTer10
NM_080538.2:c.767del	NP_536799.1:p.Pro256GlnfsTer10
NM_080539.3:c.695del	NP_536800.2:p.Pro232GlnfsTer10
NM_005677.4:c.797del MANE Select	NP_005668.2:p.Pro266GlnfsTer10
NM_080539.4:c.695del	NP_536800.2:p.Pro232GlnfsTer10