Canonical Allele Identifier: CA2624007264

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457117-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457118_20457119insTT , CM000676.2:g.20457118_20457119insTT	GRCh38
NC_000014.8:g.20925277_20925278insTT , CM000676.1:g.20925277_20925278insTT	GRCh37
NC_000014.7:g.19995117_19995118insTT	NCBI36
NG_008718.1:g.6988_6989insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.567_568insTT MANE Select	ENSP00000216714.3:p.Glu190LeufsTer8
ENST00000216714.7:c.567_568insTT	ENSP00000216714.3:p.Glu190LeufsTer8
ENST00000398030.8:c.567_568insTT	ENSP00000381111.4:p.Glu190LeufsTer8
ENST00000438886.1:c.347_348insTT
ENST00000553555.5:n.987_988insTT
ENST00000553681.5:c.567_568insTT	ENSP00000451327.1:p.Glu190LeufsTer8
ENST00000554813.5:n.633_634insTT
ENST00000555414.5:c.567_568insTT	ENSP00000451979.1:p.Glu190LeufsTer8
ENST00000555839.5:c.480_481insTT	ENSP00000452460.1:p.Glu161LeufsTer8
ENST00000557054.1:c.28-5_28-4insTT	ENSP00000452212.2:n.28-5_28-4insTT
ENST00000557159.5:n.1183_1184insTT
ENST00000557365.1:n.647_648insTT
ENST00000557592.5:c.516_517insTT
NM_001244249.1:c.567_568insTT	NP_001231178.1:p.Glu190LeufsTer8
NM_001641.3:c.567_568insTT	NP_001632.2:p.Glu190LeufsTer8
NM_080648.2:c.567_568insTT	NP_542379.1:p.Glu190LeufsTer8
NM_080649.2:c.567_568insTT	NP_542380.1:p.Glu190LeufsTer8
XM_005267581.3:c.567_568insTT	XP_005267638.1:p.Glu190LeufsTer8
XM_005267582.3:c.516_517insTT	XP_005267639.1:p.Glu173LeufsTer8
NM_001641.4:c.567_568insTT MANE Select	NP_001632.2:p.Glu190LeufsTer8
NM_001244249.2:c.567_568insTT	NP_001231178.1:p.Glu190LeufsTer8
NM_080648.3:c.567_568insTT	NP_542379.1:p.Glu190LeufsTer8
NM_080649.3:c.567_568insTT	NP_542380.1:p.Glu190LeufsTer8