Canonical Allele Identifier: CA2122041757

Gene: APEX1

Linked Data

• dbSNP Id: rs1881430687

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457115_20457116dup , CM000676.2:g.20457115_20457116dup	GRCh38
NC_000014.8:g.20925274_20925275dup , CM000676.1:g.20925274_20925275dup	GRCh37
NC_000014.7:g.19995114_19995115dup	NCBI36
NG_008718.1:g.6985_6986dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.564_565dup MANE Select	ENSP00000216714.3:p.Asp189GlyfsTer9
ENST00000216714.7:c.564_565dup	ENSP00000216714.3:p.Asp189GlyfsTer9
ENST00000398030.8:c.564_565dup	ENSP00000381111.4:p.Asp189GlyfsTer9
ENST00000438886.1:c.344_345dup
ENST00000553555.5:n.984_985dup
ENST00000553681.5:c.564_565dup	ENSP00000451327.1:p.Asp189GlyfsTer9
ENST00000554813.5:n.630_631dup
ENST00000555414.5:c.564_565dup	ENSP00000451979.1:p.Asp189GlyfsTer9
ENST00000555839.5:c.477_478dup	ENSP00000452460.1:p.Asp160GlyfsTer9
ENST00000557054.1:c.28-8_28-7dup	ENSP00000452212.2:n.28-8_28-7dup
ENST00000557159.5:n.1180_1181dup
ENST00000557365.1:n.644_645dup
ENST00000557592.5:c.513_514dup	ENSP00000451060.1:p.Asp172GlyfsTer?
NM_001244249.1:c.564_565dup	NP_001231178.1:p.Asp189GlyfsTer9
NM_001641.3:c.564_565dup	NP_001632.2:p.Asp189GlyfsTer9
NM_080648.2:c.564_565dup	NP_542379.1:p.Asp189GlyfsTer9
NM_080649.2:c.564_565dup	NP_542380.1:p.Asp189GlyfsTer9
XM_005267581.3:c.564_565dup	XP_005267638.1:p.Asp189GlyfsTer9
XM_005267582.3:c.513_514dup	XP_005267639.1:p.Asp172GlyfsTer9
NM_001641.4:c.564_565dup MANE Select	NP_001632.2:p.Asp189GlyfsTer9
NM_001244249.2:c.564_565dup	NP_001231178.1:p.Asp189GlyfsTer9
NM_080648.3:c.564_565dup	NP_542379.1:p.Asp189GlyfsTer9
NM_080649.3:c.564_565dup	NP_542380.1:p.Asp189GlyfsTer9