Canonical Allele Identifier: CA2664661467

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466337-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466338_15466339del , CM000665.2:g.15466338_15466339del	GRCh38
NC_000003.11:g.15507845_15507846del , CM000665.1:g.15507845_15507846del	GRCh37
NC_000003.10:g.15482849_15482850del	NCBI36
NG_009032.1:g.60413_60414del
NG_009032.2:g.60413_60414del

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.814+2_814+3del MANE Select	ENSP00000373298.3:n.814+2_814+3del
ENST00000604401.2:n.810+2_810+3del
ENST00000679838.1:c.*576+2_*576+3del	ENSP00000505708.1:n.*576+2_*576+3del
ENST00000680545.1:n.580+2_580+3del
ENST00000681097.1:c.814+2_814+3del	ENSP00000505397.1:n.814+2_814+3del
ENST00000383781.8:c.784+2_784+3del	ENSP00000373291.3:n.784+2_784+3del
ENST00000383786.9:c.712+2_712+3del	ENSP00000373296.3:n.712+2_712+3del
ENST00000383788.9:c.814+2_814+3del	ENSP00000373298.3:n.814+2_814+3del
ENST00000603808.5:c.814+2_814+3del	ENSP00000474271.1:n.814+2_814+3del
NM_005677.3:c.814+2_814+3del	NP_005668.2:n.814+2_814+3del
NM_080538.2:c.784+2_784+3del	NP_536799.1:n.784+2_784+3del
NM_080539.3:c.712+2_712+3del	NP_536800.2:n.712+2_712+3del
NM_005677.4:c.814+2_814+3del MANE Select	NP_005668.2:n.814+2_814+3del
NM_080539.4:c.712+2_712+3del	NP_536800.2:n.712+2_712+3del