Canonical Allele Identifier: CA2664661789

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470545-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470546del , CM000665.2:g.15470546del	GRCh38
NC_000003.11:g.15512053del , CM000665.1:g.15512053del	GRCh37
NC_000003.10:g.15487057del	NCBI36
NG_009032.1:g.56206del
NG_009032.2:g.56206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.707del MANE Select	ENSP00000373298.3:p.Arg236GlnfsTer?
ENST00000604401.2:n.703del
ENST00000679838.1:c.*469del	ENSP00000505708.1:n.*469del
ENST00000680545.1:n.473del
ENST00000681097.1:c.707del	ENSP00000505397.1:p.Arg236GlnfsTer?
ENST00000383781.8:c.677del	ENSP00000373291.3:p.Arg226GlnfsTer?
ENST00000383786.9:c.605del	ENSP00000373296.3:p.Arg202GlnfsTer?
ENST00000383788.9:c.707del	ENSP00000373298.3:p.Arg236GlnfsTer?
ENST00000603808.5:c.707del	ENSP00000474271.1:p.Arg236GlnfsTer?
ENST00000605797.1:c.536del	ENSP00000474936.1:p.Arg179GlnfsTer?
NM_005677.3:c.707del	NP_005668.2:p.Arg236GlnfsTer?
NM_080538.2:c.677del	NP_536799.1:p.Arg226GlnfsTer?
NM_080539.3:c.605del	NP_536800.2:p.Arg202GlnfsTer?
NM_005677.4:c.707del MANE Select	NP_005668.2:p.Arg236GlnfsTer?
NM_080539.4:c.605del	NP_536800.2:p.Arg202GlnfsTer?