Canonical Allele Identifier: CA891843053

Gene: EAF1-AS1 COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15453902dup , CM000665.2:g.15453902dup	GRCh38
NC_000003.11:g.15495409dup , CM000665.1:g.15495409dup	GRCh37
NC_000003.10:g.15470413dup	NCBI36
NG_009032.1:g.72850dup
NG_009032.2:g.72850dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.1225dup (COLQ) MANE Select	NP_005668.2:p.His409ProfsTer4
ENST00000383788.10:c.1225dup (COLQ) MANE Select	ENSP00000373298.3:p.His409ProfsTer4
NM_005677.3:c.1225dup (COLQ)	NP_005668.2:p.His409ProfsTer4
NM_080538.2:c.1195dup (COLQ)	NP_536799.1:p.His399ProfsTer4
NM_080539.3:c.1123dup (COLQ)	NP_536800.2:p.His375ProfsTer4
NM_080539.4:c.1123dup (COLQ)	NP_536800.2:p.His375ProfsTer4
ENST00000383781.8:c.1195dup (COLQ)	ENSP00000373291.3:p.His399ProfsTer4
ENST00000383786.9:c.1123dup (COLQ)	ENSP00000373296.3:p.His375ProfsTer4
ENST00000383788.9:c.1225dup (COLQ)	ENSP00000373298.3:p.His409ProfsTer4
ENST00000603808.5:c.1228dup (COLQ)	ENSP00000474271.1:p.His410ProfsTer4
ENST00000604401.2:n.1081dup (COLQ)
ENST00000608408.2:n.56dup (EAF1-AS1)
ENST00000629729.3:c.72dup	ENSP00000518887.1:p.Thr25HisfsTer?
ENST00000679838.1:c.*987dup (COLQ)	ENSP00000505708.1:n.*987dup
ENST00000680240.1:n.1137dup (COLQ)
ENST00000680545.1:n.991dup (COLQ)
ENST00000680897.1:n.690dup (COLQ)
ENST00000681097.1:c.*239dup (COLQ)	ENSP00000505397.1:n.*239dup
ENST00000681222.1:n.4716dup (COLQ)