Canonical Allele Identifier: CA901023056

Gene: COLQ

Linked Data

• dbSNP Id: rs1385417161
• MyVariant Identifiers: chr3:g.15520673_15520674insGT (hg19) ; chr3:g.15479166_15479167insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479168_15479169dup , CM000665.2:g.15479168_15479169dup	GRCh38
NC_000003.11:g.15520675_15520676dup , CM000665.1:g.15520675_15520676dup	GRCh37
NC_000003.10:g.15495679_15495680dup	NCBI36
NG_009032.1:g.47584_47585dup
NG_009032.2:g.47584_47585dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.367-165_367-164dup MANE Select	ENSP00000373298.3:n.367-165_367-164dup
ENST00000679838.1:c.*129-165_*129-164dup	ENSP00000505708.1:n.*129-165_*129-164dup
ENST00000681097.1:c.367-165_367-164dup	ENSP00000505397.1:n.367-165_367-164dup
ENST00000383781.8:c.337-165_337-164dup	ENSP00000373291.3:n.337-165_337-164dup
ENST00000383786.9:c.265-165_265-164dup	ENSP00000373296.3:n.265-165_265-164dup
ENST00000383788.9:c.367-165_367-164dup	ENSP00000373298.3:n.367-165_367-164dup
ENST00000603469.1:n.38-165_38-164dup
ENST00000603808.5:c.367-165_367-164dup	ENSP00000474271.1:n.367-165_367-164dup
ENST00000605797.1:c.196-165_196-164dup	ENSP00000474936.1:n.196-165_196-164dup
NM_005677.3:c.367-165_367-164dup	NP_005668.2:n.367-165_367-164dup
NM_080538.2:c.337-165_337-164dup	NP_536799.1:n.337-165_337-164dup
NM_080539.3:c.265-165_265-164dup	NP_536800.2:n.265-165_265-164dup
NM_005677.4:c.367-165_367-164dup MANE Select	NP_005668.2:n.367-165_367-164dup
NM_080539.4:c.265-165_265-164dup	NP_536800.2:n.265-165_265-164dup