Canonical Allele Identifier: CA2276200

Gene: COLQ

Linked Data

• dbSNP Id: rs771317575
• ExAC: 3:15520481 T / TACC
• gnomAD v2: 3-15520481-T-TACC
• gnomAD v4: 3-15478974-T-TACC
• MyVariant Identifiers: chr3:g.15520481_15520482insACC (hg19) ; chr3:g.15478974_15478975insACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478975_15478977dup , CM000665.2:g.15478975_15478977dup	GRCh38
NC_000003.11:g.15520482_15520484dup , CM000665.1:g.15520482_15520484dup	GRCh37
NC_000003.10:g.15495486_15495488dup	NCBI36
NG_009032.1:g.47775_47777dup
NG_009032.2:g.47775_47777dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.393_393+2dup
ENST00000679838.1:c.*155_*155+2dup
ENST00000681097.1:c.393_393+2dup
ENST00000383781.8:c.363_363+2dup
ENST00000383786.9:c.291_291+2dup
ENST00000383788.9:c.393_393+2dup
ENST00000603469.1:n.64_66dup
ENST00000603808.5:c.393_393+2dup
ENST00000605797.1:c.222_222+2dup
NM_005677.3:c.393_393+2dup
NM_080538.2:c.363_363+2dup
NM_080539.3:c.291_291+2dup
NM_005677.4:c.393_393+2dup
NM_080539.4:c.291_291+2dup