Canonical Allele Identifier: CA541360319

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs1357871041
• gnomAD v2: 3-15492378-CA-C
• gnomAD v3: 3-15450871-CA-C
• gnomAD v4: 3-15450871-CA-C
• MyVariant Identifiers: chr3:g.15492379del (hg19) ; chr3:g.15492379_15492380delinsG (hg19) ; chr3:g.15450872del (hg38) ; chr3:g.15450872_15450873delinsG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450872del , CM000665.2:g.15450872del	GRCh38
NC_000003.11:g.15492379del , CM000665.1:g.15492379del	GRCh37
NC_000003.10:g.15467383del	NCBI36
NG_009032.1:g.75880del
NG_009032.2:g.75880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+573del (EAF1-AS1)
ENST00000626521.1:n.55+573del (EAF1-AS1)
ENST00000629729.3:c.414+573del	ENSP00000518887.1:n.414+573del
ENST00000383788.10:c.*772del (COLQ) MANE Select	ENSP00000373298.3:n.*772del
ENST00000679838.1:c.*1902del (COLQ)	ENSP00000505708.1:n.*1902del
ENST00000680545.1:n.1906del (COLQ)
ENST00000680897.1:n.1605del (COLQ)
ENST00000681097.1:c.*1154del (COLQ)	ENSP00000505397.1:n.*1154del
ENST00000681222.1:n.5631del (COLQ)
ENST00000383781.8:c.*772del (COLQ)	ENSP00000373291.3:n.*772del
ENST00000383788.9:c.*772del (COLQ)	ENSP00000373298.3:n.*772del
ENST00000603752.1:n.8del (COLQ)
NM_005677.3:c.*772del (COLQ)	NP_005668.2:n.*772del
NM_080538.2:c.*772del (COLQ)	NP_536799.1:n.*772del
NM_080539.3:c.*772del (COLQ)	NP_536800.2:n.*772del
NM_005677.4:c.*772del (COLQ) MANE Select	NP_005668.2:n.*772del
NM_080539.4:c.*772del (COLQ)	NP_536800.2:n.*772del