Canonical Allele Identifier: CA7081511

Gene: APEX1

Linked Data

• dbSNP Id: rs777728999
• ExAC: 14:20924878 TCAGAGAA / T
• gnomAD v2: 14-20924878-TCAGAGAA-T
• gnomAD v3: 14-20456719-TCAGAGAA-T
• gnomAD v4: 14-20456719-TCAGAGAA-T
• MyVariant Identifiers: chr14:g.20924879_20924885del (hg19) ; chr14:g.20456720_20456726del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456722_20456728del , CM000676.2:g.20456722_20456728del	GRCh38
NC_000014.8:g.20924881_20924887del , CM000676.1:g.20924881_20924887del	GRCh37
NC_000014.7:g.19994721_19994727del	NCBI36
NG_008718.1:g.6592_6598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.301_307del MANE Select	ENSP00000216714.3:p.Glu101AsnfsTer?
ENST00000216714.7:c.301_307del	ENSP00000216714.3:p.Glu101AsnfsTer?
ENST00000398030.8:c.301_307del	ENSP00000381111.4:p.Glu101AsnfsTer?
ENST00000438886.1:c.150_156del
ENST00000553555.5:n.721_727del
ENST00000553681.5:c.301_307del	ENSP00000451327.1:p.Glu101AsnfsTer?
ENST00000554813.5:n.367_373del
ENST00000555306.5:n.748_754del
ENST00000555414.5:c.301_307del	ENSP00000451979.1:p.Glu101AsnfsTer?
ENST00000555839.5:c.301_307del	ENSP00000452460.1:p.Glu101AsnfsTer?
ENST00000556054.5:c.301_307del	ENSP00000451170.1:p.Glu101AsnfsTer?
ENST00000557054.1:c.28-401_28-395del	ENSP00000452212.2:n.28-401_28-395del
ENST00000557150.5:c.250_256del	ENSP00000452418.1:p.Glu84AsnfsTer?
ENST00000557159.5:n.917_923del
ENST00000557181.5:c.301_307del	ENSP00000452304.1:p.Glu101AsnfsTer?
ENST00000557344.5:c.301_307del	ENSP00000452137.1:p.Glu101AsnfsTer?
ENST00000557365.1:n.381_387del
ENST00000557592.5:c.250_256del	ENSP00000451060.1:p.Glu84AsnfsTer?
NM_001244249.1:c.301_307del	NP_001231178.1:p.Glu101AsnfsTer?
NM_001641.3:c.301_307del	NP_001632.2:p.Glu101AsnfsTer?
NM_080648.2:c.301_307del	NP_542379.1:p.Glu101AsnfsTer?
NM_080649.2:c.301_307del	NP_542380.1:p.Glu101AsnfsTer?
XM_005267581.3:c.301_307del	XP_005267638.1:p.Glu101AsnfsTer?
XM_005267582.3:c.250_256del	XP_005267639.1:p.Glu84AsnfsTer?
NM_001641.4:c.301_307del MANE Select	NP_001632.2:p.Glu101AsnfsTer?
NM_001244249.2:c.301_307del	NP_001231178.1:p.Glu101AsnfsTer?
NM_080648.3:c.301_307del	NP_542379.1:p.Glu101AsnfsTer?
NM_080649.3:c.301_307del	NP_542380.1:p.Glu101AsnfsTer?