Canonical Allele Identifier: CA2122041960

Gene: APEX1

Linked Data

• dbSNP Id: rs1881439772
• gnomAD v4: 14-20457203-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457205del , CM000676.2:g.20457205del	GRCh38
NC_000014.8:g.20925364del , CM000676.1:g.20925364del	GRCh37
NC_000014.7:g.19995204del	NCBI36
NG_008718.1:g.7075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.654del MANE Select	ENSP00000216714.3:p.Ile218MetfsTer?
ENST00000216714.7:c.654del	ENSP00000216714.3:p.Ile218MetfsTer?
ENST00000398030.8:c.654del	ENSP00000381111.4:p.Ile218MetfsTer?
ENST00000438886.1:c.434del
ENST00000553555.5:n.1074del
ENST00000553681.5:c.654del	ENSP00000451327.1:p.Ile218MetfsTer?
ENST00000555414.5:c.654del	ENSP00000451979.1:p.Ile218MetfsTer?
ENST00000555839.5:c.567del	ENSP00000452460.1:p.Ile189MetfsTer?
ENST00000557054.1:c.*65del	ENSP00000452212.2:n.*65del
ENST00000557159.5:n.1270del
ENST00000557365.1:n.734del
NM_001244249.1:c.654del	NP_001231178.1:p.Ile218MetfsTer?
NM_001641.3:c.654del	NP_001632.2:p.Ile218MetfsTer?
NM_080648.2:c.654del	NP_542379.1:p.Ile218MetfsTer?
NM_080649.2:c.654del	NP_542380.1:p.Ile218MetfsTer?
XM_005267581.3:c.654del	XP_005267638.1:p.Ile218MetfsTer?
XM_005267582.3:c.603del	XP_005267639.1:p.Ile201MetfsTer?
NM_001641.4:c.654del MANE Select	NP_001632.2:p.Ile218MetfsTer?
NM_001244249.2:c.654del	NP_001231178.1:p.Ile218MetfsTer?
NM_080648.3:c.654del	NP_542379.1:p.Ile218MetfsTer?
NM_080649.3:c.654del	NP_542380.1:p.Ile218MetfsTer?