Canonical Allele Identifier: CA612862171

Gene: APEX1

Linked Data

• dbSNP Id: rs1395939828
• gnomAD v2: 14-20925392-AAG-A
• gnomAD v4: 14-20457233-AAG-A
• MyVariant Identifiers: chr14:g.20925393_20925394del (hg19) ; chr14:g.20457234_20457235del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457235_20457236del , CM000676.2:g.20457235_20457236del	GRCh38
NC_000014.8:g.20925394_20925395del , CM000676.1:g.20925394_20925395del	GRCh37
NC_000014.7:g.19995234_19995235del	NCBI36
NG_008718.1:g.7105_7106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.684_685del MANE Select	ENSP00000216714.3:p.Asn229CysfsTer22
ENST00000216714.7:c.684_685del	ENSP00000216714.3:p.Asn229CysfsTer22
ENST00000398030.8:c.684_685del	ENSP00000381111.4:p.Asn229CysfsTer22
ENST00000553555.5:n.1104_1105del
ENST00000553681.5:c.684_685del	ENSP00000451327.1:p.Asn229CysfsTer22
ENST00000555414.5:c.684_685del	ENSP00000451979.1:p.Asn229CysfsTer22
ENST00000555839.5:c.597_598del	ENSP00000452460.1:p.Asn200CysfsTer22
ENST00000557054.1:c.*95_*96del	ENSP00000452212.2:n.*95_*96del
ENST00000557159.5:n.1300_1301del
ENST00000557365.1:n.764_765del
NM_001244249.1:c.684_685del	NP_001231178.1:p.Asn229CysfsTer22
NM_001641.3:c.684_685del	NP_001632.2:p.Asn229CysfsTer22
NM_080648.2:c.684_685del	NP_542379.1:p.Asn229CysfsTer22
NM_080649.2:c.684_685del	NP_542380.1:p.Asn229CysfsTer22
XM_005267581.3:c.684_685del	XP_005267638.1:p.Asn229CysfsTer22
XM_005267582.3:c.633_634del	XP_005267639.1:p.Asn212CysfsTer22
NM_001641.4:c.684_685del MANE Select	NP_001632.2:p.Asn229CysfsTer22
NM_001244249.2:c.684_685del	NP_001231178.1:p.Asn229CysfsTer22
NM_080648.3:c.684_685del	NP_542379.1:p.Asn229CysfsTer22
NM_080649.3:c.684_685del	NP_542380.1:p.Asn229CysfsTer22