Canonical Allele Identifier: CA2664659879

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450919-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450923del , CM000665.2:g.15450923del	GRCh38
NC_000003.11:g.15492430del , CM000665.1:g.15492430del	GRCh37
NC_000003.10:g.15467434del	NCBI36
NG_009032.1:g.75832del
NG_009032.2:g.75832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+525del (EAF1-AS1)
ENST00000626521.1:n.55+525del (EAF1-AS1)
ENST00000629729.3:c.414+525del	ENSP00000518887.1:n.414+525del
ENST00000383788.10:c.*724del (COLQ) MANE Select	ENSP00000373298.3:n.*724del
ENST00000679838.1:c.*1854del (COLQ)	ENSP00000505708.1:n.*1854del
ENST00000680545.1:n.1858del (COLQ)
ENST00000680897.1:n.1557del (COLQ)
ENST00000681097.1:c.*1106del (COLQ)	ENSP00000505397.1:n.*1106del
ENST00000681222.1:n.5583del (COLQ)
ENST00000383781.8:c.*724del (COLQ)	ENSP00000373291.3:n.*724del
ENST00000383788.9:c.*724del (COLQ)	ENSP00000373298.3:n.*724del
NM_005677.3:c.*724del (COLQ)	NP_005668.2:n.*724del
NM_080538.2:c.*724del (COLQ)	NP_536799.1:n.*724del
NM_080539.3:c.*724del (COLQ)	NP_536800.2:n.*724del
NM_005677.4:c.*724del (COLQ) MANE Select	NP_005668.2:n.*724del
NM_080539.4:c.*724del (COLQ)	NP_536800.2:n.*724del