Canonical Allele Identifier: CA2624007215

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457096-T-TGGAGTACC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457099_20457106dup , CM000676.2:g.20457099_20457106dup	GRCh38
NC_000014.8:g.20925258_20925265dup , CM000676.1:g.20925258_20925265dup	GRCh37
NC_000014.7:g.19995098_19995105dup	NCBI36
NG_008718.1:g.6969_6976dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.548_555dup MANE Select	ENSP00000216714.3:p.Gln186SerfsTer14
ENST00000216714.7:c.548_555dup	ENSP00000216714.3:p.Gln186SerfsTer14
ENST00000398030.8:c.548_555dup	ENSP00000381111.4:p.Gln186SerfsTer14
ENST00000438886.1:c.328_335dup
ENST00000553555.5:n.968_975dup
ENST00000553681.5:c.548_555dup	ENSP00000451327.1:p.Gln186SerfsTer14
ENST00000554813.5:n.614_621dup
ENST00000555414.5:c.548_555dup	ENSP00000451979.1:p.Gln186SerfsTer14
ENST00000555839.5:c.461_468dup	ENSP00000452460.1:p.Gln157SerfsTer14
ENST00000557054.1:c.28-24_28-17dup	ENSP00000452212.2:n.28-24_28-17dup
ENST00000557159.5:n.1164_1171dup
ENST00000557365.1:n.628_635dup
ENST00000557592.5:c.497_504dup	ENSP00000451060.1:p.Gln169SerfsTer?
NM_001244249.1:c.548_555dup	NP_001231178.1:p.Gln186SerfsTer14
NM_001641.3:c.548_555dup	NP_001632.2:p.Gln186SerfsTer14
NM_080648.2:c.548_555dup	NP_542379.1:p.Gln186SerfsTer14
NM_080649.2:c.548_555dup	NP_542380.1:p.Gln186SerfsTer14
XM_005267581.3:c.548_555dup	XP_005267638.1:p.Gln186SerfsTer14
XM_005267582.3:c.497_504dup	XP_005267639.1:p.Gln169SerfsTer14
NM_001641.4:c.548_555dup MANE Select	NP_001632.2:p.Gln186SerfsTer14
NM_001244249.2:c.548_555dup	NP_001231178.1:p.Gln186SerfsTer14
NM_080648.3:c.548_555dup	NP_542379.1:p.Gln186SerfsTer14
NM_080649.3:c.548_555dup	NP_542380.1:p.Gln186SerfsTer14