Canonical Allele Identifier: CA2664659805

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450797-T-TCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450797_15450798insCTC , CM000665.2:g.15450797_15450798insCTC	GRCh38
NC_000003.11:g.15492304_15492305insCTC , CM000665.1:g.15492304_15492305insCTC	GRCh37
NC_000003.10:g.15467308_15467309insCTC	NCBI36
NG_009032.1:g.75954_75955insGAG
NG_009032.2:g.75954_75955insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+647_398+648insGAG (EAF1-AS1)
ENST00000626521.1:n.55+647_55+648insGAG (EAF1-AS1)
ENST00000629729.3:c.414+647_414+648insGAG	ENSP00000518887.1:n.414+647_414+648insGAG
ENST00000383788.10:c.*846_*847insGAG (COLQ) MANE Select	ENSP00000373298.3:n.*846_*847insGAG
ENST00000679838.1:c.*1976_*1977insGAG (COLQ)	ENSP00000505708.1:n.*1976_*1977insGAG
ENST00000680545.1:n.1980_1981insGAG (COLQ)
ENST00000680897.1:n.1679_1680insGAG (COLQ)
ENST00000681097.1:c.*1228_*1229insGAG (COLQ)	ENSP00000505397.1:n.*1228_*1229insGAG
ENST00000681222.1:n.5705_5706insGAG (COLQ)
ENST00000383781.8:c.*846_*847insGAG (COLQ)	ENSP00000373291.3:n.*846_*847insGAG
ENST00000383788.9:c.*846_*847insGAG (COLQ)	ENSP00000373298.3:n.*846_*847insGAG
ENST00000603752.1:n.82_83insGAG (COLQ)
NM_005677.3:c.*846_*847insGAG (COLQ)	NP_005668.2:n.*846_*847insGAG
NM_080538.2:c.*846_*847insGAG (COLQ)	NP_536799.1:n.*846_*847insGAG
NM_080539.3:c.*846_*847insGAG (COLQ)	NP_536800.2:n.*846_*847insGAG
NM_005677.4:c.*846_*847insGAG (COLQ) MANE Select	NP_005668.2:n.*846_*847insGAG
NM_080539.4:c.*846_*847insGAG (COLQ)	NP_536800.2:n.*846_*847insGAG