Canonical Allele Identifier: CA2122042044

Gene: APEX1

Linked Data

• dbSNP Id: rs1881442952

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457249_20457255del , CM000676.2:g.20457249_20457255del	GRCh38
NC_000014.8:g.20925408_20925414del , CM000676.1:g.20925408_20925414del	GRCh37
NC_000014.7:g.19995248_19995254del	NCBI36
NG_008718.1:g.7119_7125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.698_704del MANE Select	ENSP00000216714.3:p.Thr233LysfsTer?
ENST00000216714.7:c.698_704del	ENSP00000216714.3:p.Thr233LysfsTer?
ENST00000398030.8:c.698_704del	ENSP00000381111.4:p.Thr233LysfsTer?
ENST00000553555.5:n.1118_1124del
ENST00000553681.5:c.698_704del	ENSP00000451327.1:p.Thr233LysfsTer?
ENST00000555414.5:c.698_704del	ENSP00000451979.1:p.Thr233LysfsTer?
ENST00000555839.5:c.611_617del	ENSP00000452460.1:p.Thr204LysfsTer?
ENST00000557054.1:c.*109_*115del	ENSP00000452212.2:n.*109_*115del
ENST00000557159.5:n.1314_1320del
ENST00000557365.1:n.778_784del
NM_001244249.1:c.698_704del	NP_001231178.1:p.Thr233LysfsTer?
NM_001641.3:c.698_704del	NP_001632.2:p.Thr233LysfsTer?
NM_080648.2:c.698_704del	NP_542379.1:p.Thr233LysfsTer?
NM_080649.2:c.698_704del	NP_542380.1:p.Thr233LysfsTer?
XM_005267581.3:c.698_704del	XP_005267638.1:p.Thr233LysfsTer?
XM_005267582.3:c.647_653del	XP_005267639.1:p.Thr216LysfsTer?
NM_001641.4:c.698_704del MANE Select	NP_001632.2:p.Thr233LysfsTer?
NM_001244249.2:c.698_704del	NP_001231178.1:p.Thr233LysfsTer?
NM_080648.3:c.698_704del	NP_542379.1:p.Thr233LysfsTer?
NM_080649.3:c.698_704del	NP_542380.1:p.Thr233LysfsTer?