Canonical Allele Identifier: CA2755334218

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470480_15470481del , CM000665.2:g.15470480_15470481del	GRCh38
NC_000003.11:g.15511987_15511988del , CM000665.1:g.15511987_15511988del	GRCh37
NC_000003.10:g.15486991_15486992del	NCBI36
NG_009032.1:g.56276_56277del
NG_009032.2:g.56276_56277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.717+60_717+61del MANE Select	ENSP00000373298.3:n.717+60_717+61del
ENST00000604401.2:n.713+60_713+61del
ENST00000679838.1:c.*479+60_*479+61del	ENSP00000505708.1:n.*479+60_*479+61del
ENST00000680545.1:n.483+60_483+61del
ENST00000681097.1:c.717+60_717+61del	ENSP00000505397.1:n.717+60_717+61del
ENST00000383781.8:c.687+60_687+61del	ENSP00000373291.3:n.687+60_687+61del
ENST00000383786.9:c.615+60_615+61del	ENSP00000373296.3:n.615+60_615+61del
ENST00000383788.9:c.717+60_717+61del	ENSP00000373298.3:n.717+60_717+61del
ENST00000603808.5:c.717+60_717+61del	ENSP00000474271.1:n.717+60_717+61del
ENST00000605797.1:c.546+60_546+61del	ENSP00000474936.1:n.546+60_546+61del
NM_005677.3:c.717+60_717+61del	NP_005668.2:n.717+60_717+61del
NM_080538.2:c.687+60_687+61del	NP_536799.1:n.687+60_687+61del
NM_080539.3:c.615+60_615+61del	NP_536800.2:n.615+60_615+61del
NM_005677.4:c.717+60_717+61del MANE Select	NP_005668.2:n.717+60_717+61del
NM_080539.4:c.615+60_615+61del	NP_536800.2:n.615+60_615+61del