Canonical Allele Identifier: CA704067227

Gene: APEX1

Linked Data

• dbSNP Id: rs1379570104
• MyVariant Identifiers: chr14:g.20924836_20924838del (hg19) ; chr14:g.20456677_20456679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456681_20456683del , CM000676.2:g.20456681_20456683del	GRCh38
NC_000014.8:g.20924840_20924842del , CM000676.1:g.20924840_20924842del	GRCh37
NC_000014.7:g.19994680_19994682del	NCBI36
NG_008718.1:g.6551_6553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.260_262del MANE Select	ENSP00000216714.3:p.Glu87del
ENST00000216714.7:c.260_262del	ENSP00000216714.3:p.Glu87del
ENST00000398030.8:c.260_262del	ENSP00000381111.4:p.Glu87del
ENST00000438886.1:c.109_111del
ENST00000553555.5:n.680_682del
ENST00000553681.5:c.260_262del	ENSP00000451327.1:p.Glu87del
ENST00000554325.1:c.*180_*182del	ENSP00000450604.1:n.*180_*182del
ENST00000554813.5:n.326_328del
ENST00000555306.5:n.707_709del
ENST00000555414.5:c.260_262del	ENSP00000451979.1:p.Glu87del
ENST00000555839.5:c.260_262del	ENSP00000452460.1:p.Glu87del
ENST00000556054.5:c.260_262del	ENSP00000451170.1:p.Glu87del
ENST00000557054.1:c.28-442_28-440del	ENSP00000452212.2:n.28-442_28-440del
ENST00000557150.5:c.209_211del	ENSP00000452418.1:p.Glu70del
ENST00000557159.5:n.876_878del
ENST00000557181.5:c.260_262del	ENSP00000452304.1:p.Glu87del
ENST00000557344.5:c.260_262del	ENSP00000452137.1:p.Glu87del
ENST00000557365.1:n.340_342del
ENST00000557592.5:c.209_211del	ENSP00000451060.1:p.Glu70del
NM_001244249.1:c.260_262del	NP_001231178.1:p.Glu87del
NM_001641.3:c.260_262del	NP_001632.2:p.Glu87del
NM_080648.2:c.260_262del	NP_542379.1:p.Glu87del
NM_080649.2:c.260_262del	NP_542380.1:p.Glu87del
XM_005267581.3:c.260_262del	XP_005267638.1:p.Glu87del
XM_005267582.3:c.209_211del	XP_005267639.1:p.Glu70del
NM_001641.4:c.260_262del MANE Select	NP_001632.2:p.Glu87del
NM_001244249.2:c.260_262del	NP_001231178.1:p.Glu87del
NM_080648.3:c.260_262del	NP_542379.1:p.Glu87del
NM_080649.3:c.260_262del	NP_542380.1:p.Glu87del