Canonical Allele Identifier: CA901022964

Gene: COLQ

Linked Data

• dbSNP Id: rs1348093664
• MyVariant Identifiers: chr3:g.15520616_15520617insCTT (hg19) ; chr3:g.15479109_15479110insCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479110_15479112dup , CM000665.2:g.15479110_15479112dup	GRCh38
NC_000003.11:g.15520617_15520619dup , CM000665.1:g.15520617_15520619dup	GRCh37
NC_000003.10:g.15495621_15495623dup	NCBI36
NG_009032.1:g.47640_47642dup
NG_009032.2:g.47640_47642dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.367-109_367-107dup MANE Select	ENSP00000373298.3:n.367-109_367-107dup
ENST00000679838.1:c.*129-109_*129-107dup	ENSP00000505708.1:n.*129-109_*129-107dup
ENST00000681097.1:c.367-109_367-107dup	ENSP00000505397.1:n.367-109_367-107dup
ENST00000383781.8:c.337-109_337-107dup	ENSP00000373291.3:n.337-109_337-107dup
ENST00000383786.9:c.265-109_265-107dup	ENSP00000373296.3:n.265-109_265-107dup
ENST00000383788.9:c.367-109_367-107dup	ENSP00000373298.3:n.367-109_367-107dup
ENST00000603469.1:n.38-109_38-107dup
ENST00000603808.5:c.367-109_367-107dup	ENSP00000474271.1:n.367-109_367-107dup
ENST00000605797.1:c.196-109_196-107dup	ENSP00000474936.1:n.196-109_196-107dup
NM_005677.3:c.367-109_367-107dup	NP_005668.2:n.367-109_367-107dup
NM_080538.2:c.337-109_337-107dup	NP_536799.1:n.337-109_337-107dup
NM_080539.3:c.265-109_265-107dup	NP_536800.2:n.265-109_265-107dup
NM_005677.4:c.367-109_367-107dup MANE Select	NP_005668.2:n.367-109_367-107dup
NM_080539.4:c.265-109_265-107dup	NP_536800.2:n.265-109_265-107dup