Canonical Allele Identifier: CA2122040923

Gene: APEX1

Linked Data

• dbSNP Id: rs1881384591

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456738_20456748del , CM000676.2:g.20456738_20456748del	GRCh38
NC_000014.8:g.20924897_20924907del , CM000676.1:g.20924897_20924907del	GRCh37
NC_000014.7:g.19994737_19994747del	NCBI36
NG_008718.1:g.6608_6618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.317_327del MANE Select	ENSP00000216714.3:p.Ala106GlyfsTer?
ENST00000216714.7:c.317_327del	ENSP00000216714.3:p.Ala106GlyfsTer?
ENST00000398030.8:c.317_327del	ENSP00000381111.4:p.Ala106GlyfsTer?
ENST00000438886.1:c.166_176del
ENST00000553555.5:n.737_747del
ENST00000553681.5:c.317_327del	ENSP00000451327.1:p.Ala106GlyfsTer?
ENST00000554813.5:n.383_393del
ENST00000555306.5:n.764_774del
ENST00000555414.5:c.317_327del	ENSP00000451979.1:p.Ala106GlyfsTer?
ENST00000555839.5:c.317_327del	ENSP00000452460.1:p.Ala106GlyfsTer?
ENST00000556054.5:c.317_327del	ENSP00000451170.1:p.Ala106GlyfsTer?
ENST00000557054.1:c.28-385_28-375del	ENSP00000452212.2:n.28-385_28-375del
ENST00000557150.5:c.266_276del	ENSP00000452418.1:p.Ala89GlyfsTer?
ENST00000557159.5:n.933_943del
ENST00000557344.5:c.317_327del	ENSP00000452137.1:p.Ala106GlyfsTer?
ENST00000557365.1:n.397_407del
ENST00000557592.5:c.266_276del	ENSP00000451060.1:p.Ala89GlyfsTer?
NM_001244249.1:c.317_327del	NP_001231178.1:p.Ala106GlyfsTer?
NM_001641.3:c.317_327del	NP_001632.2:p.Ala106GlyfsTer?
NM_080648.2:c.317_327del	NP_542379.1:p.Ala106GlyfsTer?
NM_080649.2:c.317_327del	NP_542380.1:p.Ala106GlyfsTer?
XM_005267581.3:c.317_327del	XP_005267638.1:p.Ala106GlyfsTer?
XM_005267582.3:c.266_276del	XP_005267639.1:p.Ala89GlyfsTer?
NM_001641.4:c.317_327del MANE Select	NP_001632.2:p.Ala106GlyfsTer?
NM_001244249.2:c.317_327del	NP_001231178.1:p.Ala106GlyfsTer?
NM_080648.3:c.317_327del	NP_542379.1:p.Ala106GlyfsTer?
NM_080649.3:c.317_327del	NP_542380.1:p.Ala106GlyfsTer?