Canonical Allele Identifier: CA2122040921

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456734_20456745delinsCCAGCTGAACTT , CM000676.2:g.20456734_20456745delinsCCAGCTGAACTT	GRCh38
NC_000014.8:g.20924893_20924904delinsCCAGCTGAACTT , CM000676.1:g.20924893_20924904delinsCCAGCTGAACTT	GRCh37
NC_000014.7:g.19994733_19994744delinsCCAGCTGAACTT	NCBI36
NG_008718.1:g.6604_6615delinsCCAGCTGAACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.313_324delinsCCAGCTGAACTT MANE Select	ENSP00000216714.3:p.Pro105=
ENST00000216714.7:c.313_324delinsCCAGCTGAACTT	ENSP00000216714.3:p.Pro105=
ENST00000398030.8:c.313_324delinsCCAGCTGAACTT	ENSP00000381111.4:p.Pro105=
ENST00000438886.1:c.162_173delinsCCAGCTGAACTT
ENST00000553555.5:n.733_744delinsCCAGCTGAACTT
ENST00000553681.5:c.313_324delinsCCAGCTGAACTT	ENSP00000451327.1:p.Pro105=
ENST00000554813.5:n.379_390delinsCCAGCTGAACTT
ENST00000555306.5:n.760_771delinsCCAGCTGAACTT
ENST00000555414.5:c.313_324delinsCCAGCTGAACTT	ENSP00000451979.1:p.Pro105=
ENST00000555839.5:c.313_324delinsCCAGCTGAACTT	ENSP00000452460.1:p.Pro105=
ENST00000556054.5:c.313_324delinsCCAGCTGAACTT	ENSP00000451170.1:p.Pro105=
ENST00000557054.1:c.28-389_28-378delinsCCAGCTGAACTT	ENSP00000452212.2:n.28-389_28-378delinsCCAGCTGAACTT
ENST00000557150.5:c.262_273delinsCCAGCTGAACTT	ENSP00000452418.1:p.Pro88=
ENST00000557159.5:n.929_940delinsCCAGCTGAACTT
ENST00000557344.5:c.313_324delinsCCAGCTGAACTT	ENSP00000452137.1:p.Pro105=
ENST00000557365.1:n.393_404delinsCCAGCTGAACTT
ENST00000557592.5:c.262_273delinsCCAGCTGAACTT	ENSP00000451060.1:p.Pro88=
NM_001244249.1:c.313_324delinsCCAGCTGAACTT	NP_001231178.1:p.Pro105=
NM_001641.3:c.313_324delinsCCAGCTGAACTT	NP_001632.2:p.Pro105=
NM_080648.2:c.313_324delinsCCAGCTGAACTT	NP_542379.1:p.Pro105=
NM_080649.2:c.313_324delinsCCAGCTGAACTT	NP_542380.1:p.Pro105=
XM_005267581.3:c.313_324delinsCCAGCTGAACTT	XP_005267638.1:p.Pro105=
XM_005267582.3:c.262_273delinsCCAGCTGAACTT	XP_005267639.1:p.Pro88=
NM_001641.4:c.313_324delinsCCAGCTGAACTT MANE Select	NP_001632.2:p.Pro105=
NM_001244249.2:c.313_324delinsCCAGCTGAACTT	NP_001231178.1:p.Pro105=
NM_080648.3:c.313_324delinsCCAGCTGAACTT	NP_542379.1:p.Pro105=
NM_080649.3:c.313_324delinsCCAGCTGAACTT	NP_542380.1:p.Pro105=