Canonical Allele Identifier: CA704009280

Gene: APEX1

Linked Data

• dbSNP Id: rs1462050434
• MyVariant Identifiers: chr14:g.20925410del (hg19) ; chr14:g.20457251del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457252del , CM000676.2:g.20457252del	GRCh38
NC_000014.8:g.20925411del , CM000676.1:g.20925411del	GRCh37
NC_000014.7:g.19995251del	NCBI36
NG_008718.1:g.7122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.701del MANE Select	ENSP00000216714.3:p.Pro234HisfsTer?
ENST00000216714.7:c.701del	ENSP00000216714.3:p.Pro234HisfsTer?
ENST00000398030.8:c.701del	ENSP00000381111.4:p.Pro234HisfsTer?
ENST00000553555.5:n.1121del
ENST00000553681.5:c.701del	ENSP00000451327.1:p.Pro234HisfsTer?
ENST00000555414.5:c.701del	ENSP00000451979.1:p.Pro234HisfsTer?
ENST00000555839.5:c.614del	ENSP00000452460.1:p.Pro205HisfsTer?
ENST00000557054.1:c.*112del	ENSP00000452212.2:n.*112del
ENST00000557159.5:n.1317del
ENST00000557365.1:n.781del
NM_001244249.1:c.701del	NP_001231178.1:p.Pro234HisfsTer?
NM_001641.3:c.701del	NP_001632.2:p.Pro234HisfsTer?
NM_080648.2:c.701del	NP_542379.1:p.Pro234HisfsTer?
NM_080649.2:c.701del	NP_542380.1:p.Pro234HisfsTer?
XM_005267581.3:c.701del	XP_005267638.1:p.Pro234HisfsTer?
XM_005267582.3:c.650del	XP_005267639.1:p.Pro217HisfsTer?
NM_001641.4:c.701del MANE Select	NP_001632.2:p.Pro234HisfsTer?
NM_001244249.2:c.701del	NP_001231178.1:p.Pro234HisfsTer?
NM_080648.3:c.701del	NP_542379.1:p.Pro234HisfsTer?
NM_080649.3:c.701del	NP_542380.1:p.Pro234HisfsTer?