Canonical Allele Identifier: CA2122042042

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457246_20457253delinsTCACGCCA , CM000676.2:g.20457246_20457253delinsTCACGCCA	GRCh38
NC_000014.8:g.20925405_20925412delinsTCACGCCA , CM000676.1:g.20925405_20925412delinsTCACGCCA	GRCh37
NC_000014.7:g.19995245_19995252delinsTCACGCCA	NCBI36
NG_008718.1:g.7116_7123delinsTCACGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.695_702delinsTCACGCCA MANE Select	ENSP00000216714.3:p.Phe232=
ENST00000216714.7:c.695_702delinsTCACGCCA	ENSP00000216714.3:p.Phe232=
ENST00000398030.8:c.695_702delinsTCACGCCA	ENSP00000381111.4:p.Phe232=
ENST00000553555.5:n.1115_1122delinsTCACGCCA
ENST00000553681.5:c.695_702delinsTCACGCCA	ENSP00000451327.1:p.Phe232=
ENST00000555414.5:c.695_702delinsTCACGCCA	ENSP00000451979.1:p.Phe232=
ENST00000555839.5:c.608_615delinsTCACGCCA	ENSP00000452460.1:p.Phe203=
ENST00000557054.1:c.*106_*113delinsTCACGCCA	ENSP00000452212.2:n.*106_*113delinsTCACGCCA
ENST00000557159.5:n.1311_1318delinsTCACGCCA
ENST00000557365.1:n.775_782delinsTCACGCCA
NM_001244249.1:c.695_702delinsTCACGCCA	NP_001231178.1:p.Phe232=
NM_001641.3:c.695_702delinsTCACGCCA	NP_001632.2:p.Phe232=
NM_080648.2:c.695_702delinsTCACGCCA	NP_542379.1:p.Phe232=
NM_080649.2:c.695_702delinsTCACGCCA	NP_542380.1:p.Phe232=
XM_005267581.3:c.695_702delinsTCACGCCA	XP_005267638.1:p.Phe232=
XM_005267582.3:c.644_651delinsTCACGCCA	XP_005267639.1:p.Phe215=
NM_001641.4:c.695_702delinsTCACGCCA MANE Select	NP_001632.2:p.Phe232=
NM_001244249.2:c.695_702delinsTCACGCCA	NP_001231178.1:p.Phe232=
NM_080648.3:c.695_702delinsTCACGCCA	NP_542379.1:p.Phe232=
NM_080649.3:c.695_702delinsTCACGCCA	NP_542380.1:p.Phe232=