Canonical Allele Identifier: CA1347589162

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470420_15470425delinsTGCTGG , CM000665.2:g.15470420_15470425delinsTGCTGG	GRCh38
NC_000003.11:g.15511927_15511932delinsTGCTGG , CM000665.1:g.15511927_15511932delinsTGCTGG	GRCh37
NC_000003.10:g.15486931_15486936delinsTGCTGG	NCBI36
NG_009032.1:g.56327_56332delinsCCAGCA
NG_009032.2:g.56327_56332delinsCCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.717+111_717+116delinsCCAGCA MANE Select	ENSP00000373298.3:n.717+111_717+116delinsCCAGCA
ENST00000604401.2:n.713+111_713+116delinsCCAGCA
ENST00000679838.1:c.*479+111_*479+116delinsCCAGCA	ENSP00000505708.1:n.*479+111_*479+116delinsCCAGCA
ENST00000680545.1:n.483+111_483+116delinsCCAGCA
ENST00000681097.1:c.717+111_717+116delinsCCAGCA	ENSP00000505397.1:n.717+111_717+116delinsCCAGCA
ENST00000383781.8:c.687+111_687+116delinsCCAGCA	ENSP00000373291.3:n.687+111_687+116delinsCCAGCA
ENST00000383786.9:c.615+111_615+116delinsCCAGCA	ENSP00000373296.3:n.615+111_615+116delinsCCAGCA
ENST00000383788.9:c.717+111_717+116delinsCCAGCA	ENSP00000373298.3:n.717+111_717+116delinsCCAGCA
ENST00000603808.5:c.717+111_717+116delinsCCAGCA	ENSP00000474271.1:n.717+111_717+116delinsCCAGCA
ENST00000605797.1:c.546+111_546+116delinsCCAGCA	ENSP00000474936.1:n.546+111_546+116delinsCCAGCA
NM_005677.3:c.717+111_717+116delinsCCAGCA	NP_005668.2:n.717+111_717+116delinsCCAGCA
NM_080538.2:c.687+111_687+116delinsCCAGCA	NP_536799.1:n.687+111_687+116delinsCCAGCA
NM_080539.3:c.615+111_615+116delinsCCAGCA	NP_536800.2:n.615+111_615+116delinsCCAGCA
NM_005677.4:c.717+111_717+116delinsCCAGCA MANE Select	NP_005668.2:n.717+111_717+116delinsCCAGCA
NM_080539.4:c.615+111_615+116delinsCCAGCA	NP_536800.2:n.615+111_615+116delinsCCAGCA