Canonical Allele Identifier: CA2573136188

Gene: EAF1-AS1 COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15451686_15451688del , CM000665.2:g.15451686_15451688del	GRCh38
NC_000003.11:g.15493193_15493195del , CM000665.1:g.15493193_15493195del	GRCh37
NC_000003.10:g.15468197_15468199del	NCBI36
NG_009032.1:g.75064_75066del
NG_009032.2:g.75064_75066del

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.1324_1326del (COLQ) MANE Select	NP_005668.2:p.Gln442del
ENST00000383788.10:c.1324_1326del (COLQ) MANE Select	ENSP00000373298.3:p.Gln442del
NM_005677.3:c.1324_1326del (COLQ)	NP_005668.2:p.Gln442del
NM_080538.2:c.1294_1296del (COLQ)	NP_536799.1:p.Gln432del
NM_080539.3:c.1222_1224del (COLQ)	NP_536800.2:p.Gln408del
NM_080539.4:c.1222_1224del (COLQ)	NP_536800.2:p.Gln408del
ENST00000383781.8:c.1294_1296del (COLQ)	ENSP00000373291.3:p.Gln432del
ENST00000383786.9:c.1222_1224del (COLQ)	ENSP00000373296.3:p.Gln408del
ENST00000383788.9:c.1324_1326del (COLQ)	ENSP00000373298.3:p.Gln442del
ENST00000603808.5:c.1327_1329del (COLQ)	ENSP00000474271.1:p.Gln443del
ENST00000604401.2:n.1180_1182del (COLQ)
ENST00000608408.2:n.155_157del (EAF1-AS1)
ENST00000629729.3:c.171_173del	ENSP00000518887.1:n.171_173del
ENST00000679838.1:c.*1086_*1088del (COLQ)	ENSP00000505708.1:n.*1086_*1088del
ENST00000680240.1:n.1236_1238del (COLQ)
ENST00000680545.1:n.1090_1092del (COLQ)
ENST00000680897.1:n.789_791del (COLQ)
ENST00000681097.1:c.*338_*340del (COLQ)	ENSP00000505397.1:n.*338_*340del
ENST00000681222.1:n.4815_4817del (COLQ)