Canonical Allele Identifier: CA2275987

Gene: COLQ

Linked Data

• dbSNP Id: rs767954552
• ExAC: 3:15507958 AG / A
• gnomAD v2: 3-15507958-AG-A
• gnomAD v3: 3-15466451-AG-A
• gnomAD v4: 3-15466451-AG-A
• MyVariant Identifiers: chr3:g.15507959del (hg19) ; chr3:g.15466453del (hg38) ; chr3:g.15466452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466453del , CM000665.2:g.15466453del	GRCh38
NC_000003.11:g.15507960del , CM000665.1:g.15507960del	GRCh37
NC_000003.10:g.15482964del	NCBI36
NG_009032.1:g.60300del
NG_009032.2:g.60300del

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.718-15del MANE Select	ENSP00000373298.3:n.718-15del
ENST00000604401.2:n.714-15del
ENST00000679838.1:c.*480-15del	ENSP00000505708.1:n.*480-15del
ENST00000680545.1:n.484-15del
ENST00000681097.1:c.718-15del	ENSP00000505397.1:n.718-15del
ENST00000383781.8:c.688-15del	ENSP00000373291.3:n.688-15del
ENST00000383786.9:c.616-15del	ENSP00000373296.3:n.616-15del
ENST00000383788.9:c.718-15del	ENSP00000373298.3:n.718-15del
ENST00000603808.5:c.718-15del	ENSP00000474271.1:n.718-15del
ENST00000605797.1:c.547-15del	ENSP00000474936.1:n.547-15del
NM_005677.3:c.718-15del	NP_005668.2:n.718-15del
NM_080538.2:c.688-15del	NP_536799.1:n.688-15del
NM_080539.3:c.616-15del	NP_536800.2:n.616-15del
NM_005677.4:c.718-15del MANE Select	NP_005668.2:n.718-15del
NM_080539.4:c.616-15del	NP_536800.2:n.616-15del