Canonical Allele Identifier: CA541362042

Gene: COLQ

Linked Data

• dbSNP Id: rs1205006743
• gnomAD v2: 3-15520631-A-ACGG
• gnomAD v3: 3-15479124-A-ACGG
• gnomAD v4: 3-15479124-A-ACGG
• MyVariant Identifiers: chr3:g.15520631_15520632insCGG (hg19) ; chr3:g.15479124_15479125insCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479126_15479128dup , CM000665.2:g.15479126_15479128dup	GRCh38
NC_000003.11:g.15520633_15520635dup , CM000665.1:g.15520633_15520635dup	GRCh37
NC_000003.10:g.15495637_15495639dup	NCBI36
NG_009032.1:g.47625_47627dup
NG_009032.2:g.47625_47627dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.367-124_367-122dup MANE Select	ENSP00000373298.3:n.367-124_367-122dup
ENST00000679838.1:c.*129-124_*129-122dup	ENSP00000505708.1:n.*129-124_*129-122dup
ENST00000681097.1:c.367-124_367-122dup	ENSP00000505397.1:n.367-124_367-122dup
ENST00000383781.8:c.337-124_337-122dup	ENSP00000373291.3:n.337-124_337-122dup
ENST00000383786.9:c.265-124_265-122dup	ENSP00000373296.3:n.265-124_265-122dup
ENST00000383788.9:c.367-124_367-122dup	ENSP00000373298.3:n.367-124_367-122dup
ENST00000603469.1:n.38-124_38-122dup
ENST00000603808.5:c.367-124_367-122dup	ENSP00000474271.1:n.367-124_367-122dup
ENST00000605797.1:c.196-124_196-122dup	ENSP00000474936.1:n.196-124_196-122dup
NM_005677.3:c.367-124_367-122dup	NP_005668.2:n.367-124_367-122dup
NM_080538.2:c.337-124_337-122dup	NP_536799.1:n.337-124_337-122dup
NM_080539.3:c.265-124_265-122dup	NP_536800.2:n.265-124_265-122dup
NM_005677.4:c.367-124_367-122dup MANE Select	NP_005668.2:n.367-124_367-122dup
NM_080539.4:c.265-124_265-122dup	NP_536800.2:n.265-124_265-122dup