Canonical Allele Identifier: CA1045358498

Gene: COLQ

Linked Data

• dbSNP Id: rs2062261714
• gnomAD v3: 3-15470428-TCAAG-T
• gnomAD v4: 3-15470428-TCAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470429_15470432del , CM000665.2:g.15470429_15470432del	GRCh38
NC_000003.11:g.15511936_15511939del , CM000665.1:g.15511936_15511939del	GRCh37
NC_000003.10:g.15486940_15486943del	NCBI36
NG_009032.1:g.56320_56323del
NG_009032.2:g.56320_56323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.717+104_717+107del MANE Select	ENSP00000373298.3:n.717+104_717+107del
ENST00000604401.2:n.713+104_713+107del
ENST00000679838.1:c.*479+104_*479+107del	ENSP00000505708.1:n.*479+104_*479+107del
ENST00000680545.1:n.483+104_483+107del
ENST00000681097.1:c.717+104_717+107del	ENSP00000505397.1:n.717+104_717+107del
ENST00000383781.8:c.687+104_687+107del	ENSP00000373291.3:n.687+104_687+107del
ENST00000383786.9:c.615+104_615+107del	ENSP00000373296.3:n.615+104_615+107del
ENST00000383788.9:c.717+104_717+107del	ENSP00000373298.3:n.717+104_717+107del
ENST00000603808.5:c.717+104_717+107del	ENSP00000474271.1:n.717+104_717+107del
ENST00000605797.1:c.546+104_546+107del	ENSP00000474936.1:n.546+104_546+107del
NM_005677.3:c.717+104_717+107del	NP_005668.2:n.717+104_717+107del
NM_080538.2:c.687+104_687+107del	NP_536799.1:n.687+104_687+107del
NM_080539.3:c.615+104_615+107del	NP_536800.2:n.615+104_615+107del
NM_005677.4:c.717+104_717+107del MANE Select	NP_005668.2:n.717+104_717+107del
NM_080539.4:c.615+104_615+107del	NP_536800.2:n.615+104_615+107del