Canonical Allele Identifier: CA2664659771

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450761-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450762_15450763del , CM000665.2:g.15450762_15450763del	GRCh38
NC_000003.11:g.15492269_15492270del , CM000665.1:g.15492269_15492270del	GRCh37
NC_000003.10:g.15467273_15467274del	NCBI36
NG_009032.1:g.75989_75990del
NG_009032.2:g.75989_75990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+682_398+683del (EAF1-AS1)
ENST00000626521.1:n.55+682_55+683del (EAF1-AS1)
ENST00000629729.3:c.414+682_414+683del	ENSP00000518887.1:n.414+682_414+683del
ENST00000383788.10:c.*881_*882del (COLQ) MANE Select	ENSP00000373298.3:n.*881_*882del
ENST00000679838.1:c.*2011_*2012del (COLQ)	ENSP00000505708.1:n.*2011_*2012del
ENST00000680545.1:n.2015_2016del (COLQ)
ENST00000680897.1:n.1714_1715del (COLQ)
ENST00000681097.1:c.*1263_*1264del (COLQ)	ENSP00000505397.1:n.*1263_*1264del
ENST00000681222.1:n.5740_5741del (COLQ)
ENST00000383781.8:c.*881_*882del (COLQ)	ENSP00000373291.3:n.*881_*882del
ENST00000383788.9:c.*881_*882del (COLQ)	ENSP00000373298.3:n.*881_*882del
ENST00000603752.1:n.117_118del (COLQ)
NM_005677.3:c.*881_*882del (COLQ)	NP_005668.2:n.*881_*882del
NM_080538.2:c.*881_*882del (COLQ)	NP_536799.1:n.*881_*882del
NM_080539.3:c.*881_*882del (COLQ)	NP_536800.2:n.*881_*882del
NM_005677.4:c.*881_*882del (COLQ) MANE Select	NP_005668.2:n.*881_*882del
NM_080539.4:c.*881_*882del (COLQ)	NP_536800.2:n.*881_*882del