Canonical Allele Identifier: CA2122040900

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456719_20456726delinsTCAGAGAA , CM000676.2:g.20456719_20456726delinsTCAGAGAA	GRCh38
NC_000014.8:g.20924878_20924885delinsTCAGAGAA , CM000676.1:g.20924878_20924885delinsTCAGAGAA	GRCh37
NC_000014.7:g.19994718_19994725delinsTCAGAGAA	NCBI36
NG_008718.1:g.6589_6596delinsTCAGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.298_305delinsTCAGAGAA MANE Select	ENSP00000216714.3:p.Ser100=
ENST00000216714.7:c.298_305delinsTCAGAGAA	ENSP00000216714.3:p.Ser100=
ENST00000398030.8:c.298_305delinsTCAGAGAA	ENSP00000381111.4:p.Ser100=
ENST00000438886.1:c.147_154delinsTCAGAGAA
ENST00000553555.5:n.718_725delinsTCAGAGAA
ENST00000553681.5:c.298_305delinsTCAGAGAA	ENSP00000451327.1:p.Ser100=
ENST00000554813.5:n.364_371delinsTCAGAGAA
ENST00000555306.5:n.745_752delinsTCAGAGAA
ENST00000555414.5:c.298_305delinsTCAGAGAA	ENSP00000451979.1:p.Ser100=
ENST00000555839.5:c.298_305delinsTCAGAGAA	ENSP00000452460.1:p.Ser100=
ENST00000556054.5:c.298_305delinsTCAGAGAA	ENSP00000451170.1:p.Ser100=
ENST00000557054.1:c.28-404_28-397delinsTCAGAGAA	ENSP00000452212.2:n.28-404_28-397delinsTCAGAGAA
ENST00000557150.5:c.247_254delinsTCAGAGAA	ENSP00000452418.1:p.Ser83=
ENST00000557159.5:n.914_921delinsTCAGAGAA
ENST00000557181.5:c.298_305delinsTCAGAGAA	ENSP00000452304.1:p.Ser100=
ENST00000557344.5:c.298_305delinsTCAGAGAA	ENSP00000452137.1:p.Ser100=
ENST00000557365.1:n.378_385delinsTCAGAGAA
ENST00000557592.5:c.247_254delinsTCAGAGAA	ENSP00000451060.1:p.Ser83=
NM_001244249.1:c.298_305delinsTCAGAGAA	NP_001231178.1:p.Ser100=
NM_001641.3:c.298_305delinsTCAGAGAA	NP_001632.2:p.Ser100=
NM_080648.2:c.298_305delinsTCAGAGAA	NP_542379.1:p.Ser100=
NM_080649.2:c.298_305delinsTCAGAGAA	NP_542380.1:p.Ser100=
XM_005267581.3:c.298_305delinsTCAGAGAA	XP_005267638.1:p.Ser100=
XM_005267582.3:c.247_254delinsTCAGAGAA	XP_005267639.1:p.Ser83=
NM_001641.4:c.298_305delinsTCAGAGAA MANE Select	NP_001632.2:p.Ser100=
NM_001244249.2:c.298_305delinsTCAGAGAA	NP_001231178.1:p.Ser100=
NM_080648.3:c.298_305delinsTCAGAGAA	NP_542379.1:p.Ser100=
NM_080649.3:c.298_305delinsTCAGAGAA	NP_542380.1:p.Ser100=