Canonical Allele Identifier: CA2122041849

Gene: APEX1

Linked Data

• dbSNP Id: rs1404155159

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457155del , CM000676.2:g.20457155del	GRCh38
NC_000014.8:g.20925314del , CM000676.1:g.20925314del	GRCh37
NC_000014.7:g.19995154del	NCBI36
NG_008718.1:g.7025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.604del MANE Select	ENSP00000216714.3:p.Arg202GlufsTer?
ENST00000216714.7:c.604del	ENSP00000216714.3:p.Arg202GlufsTer?
ENST00000398030.8:c.604del	ENSP00000381111.4:p.Arg202GlufsTer?
ENST00000438886.1:c.384del
ENST00000553555.5:n.1024del
ENST00000553681.5:c.604del	ENSP00000451327.1:p.Arg202GlufsTer?
ENST00000555414.5:c.604del	ENSP00000451979.1:p.Arg202GlufsTer?
ENST00000555839.5:c.517del	ENSP00000452460.1:p.Arg173GlufsTer?
ENST00000557054.1:c.*15del	ENSP00000452212.2:n.*15del
ENST00000557159.5:n.1220del
ENST00000557365.1:n.684del
NM_001244249.1:c.604del	NP_001231178.1:p.Arg202GlufsTer?
NM_001641.3:c.604del	NP_001632.2:p.Arg202GlufsTer?
NM_080648.2:c.604del	NP_542379.1:p.Arg202GlufsTer?
NM_080649.2:c.604del	NP_542380.1:p.Arg202GlufsTer?
XM_005267581.3:c.604del	XP_005267638.1:p.Arg202GlufsTer?
XM_005267582.3:c.553del	XP_005267639.1:p.Arg185GlufsTer?
NM_001641.4:c.604del MANE Select	NP_001632.2:p.Arg202GlufsTer?
NM_001244249.2:c.604del	NP_001231178.1:p.Arg202GlufsTer?
NM_080648.3:c.604del	NP_542379.1:p.Arg202GlufsTer?
NM_080649.3:c.604del	NP_542380.1:p.Arg202GlufsTer?