Canonical Allele Identifier: CA2624007440

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457222-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457226del , CM000676.2:g.20457226del	GRCh38
NC_000014.8:g.20925385del , CM000676.1:g.20925385del	GRCh37
NC_000014.7:g.19995225del	NCBI36
NG_008718.1:g.7096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.675del MANE Select	ENSP00000216714.3:p.Asn226ThrfsTer?
ENST00000216714.7:c.675del	ENSP00000216714.3:p.Asn226ThrfsTer?
ENST00000398030.8:c.675del	ENSP00000381111.4:p.Asn226ThrfsTer?
ENST00000553555.5:n.1095del
ENST00000553681.5:c.675del	ENSP00000451327.1:p.Asn226ThrfsTer?
ENST00000555414.5:c.675del	ENSP00000451979.1:p.Asn226ThrfsTer?
ENST00000555839.5:c.588del	ENSP00000452460.1:p.Asn197ThrfsTer?
ENST00000557054.1:c.*86del	ENSP00000452212.2:n.*86del
ENST00000557159.5:n.1291del
ENST00000557365.1:n.755del
NM_001244249.1:c.675del	NP_001231178.1:p.Asn226ThrfsTer?
NM_001641.3:c.675del	NP_001632.2:p.Asn226ThrfsTer?
NM_080648.2:c.675del	NP_542379.1:p.Asn226ThrfsTer?
NM_080649.2:c.675del	NP_542380.1:p.Asn226ThrfsTer?
XM_005267581.3:c.675del	XP_005267638.1:p.Asn226ThrfsTer?
XM_005267582.3:c.624del	XP_005267639.1:p.Asn209ThrfsTer?
NM_001641.4:c.675del MANE Select	NP_001632.2:p.Asn226ThrfsTer?
NM_001244249.2:c.675del	NP_001231178.1:p.Asn226ThrfsTer?
NM_080648.3:c.675del	NP_542379.1:p.Asn226ThrfsTer?
NM_080649.3:c.675del	NP_542380.1:p.Asn226ThrfsTer?