Canonical Allele Identifier: CA2624007299

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457133-G-GTTCCTGAAGGGCCTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457138_20457154dup , CM000676.2:g.20457138_20457154dup	GRCh38
NC_000014.8:g.20925297_20925313dup , CM000676.1:g.20925297_20925313dup	GRCh37
NC_000014.7:g.19995137_19995153dup	NCBI36
NG_008718.1:g.7008_7024dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.587_603dup MANE Select	ENSP00000216714.3:p.Arg202Ter
ENST00000216714.7:c.587_603dup	ENSP00000216714.3:p.Arg202Ter
ENST00000398030.8:c.587_603dup	ENSP00000381111.4:p.Arg202Ter
ENST00000438886.1:c.367_383dup
ENST00000553555.5:n.1007_1023dup
ENST00000553681.5:c.587_603dup	ENSP00000451327.1:p.Arg202Ter
ENST00000555414.5:c.587_603dup	ENSP00000451979.1:p.Arg202Ter
ENST00000555839.5:c.500_516dup	ENSP00000452460.1:p.Arg173Ter
ENST00000557054.1:c.43_*14dup	ENSP00000452212.2:n.43_*14dup
ENST00000557159.5:n.1203_1219dup
ENST00000557365.1:n.667_683dup
NM_001244249.1:c.587_603dup	NP_001231178.1:p.Arg202Ter
NM_001641.3:c.587_603dup	NP_001632.2:p.Arg202Ter
NM_080648.2:c.587_603dup	NP_542379.1:p.Arg202Ter
NM_080649.2:c.587_603dup	NP_542380.1:p.Arg202Ter
XM_005267581.3:c.587_603dup	XP_005267638.1:p.Arg202Ter
XM_005267582.3:c.536_552dup	XP_005267639.1:p.Arg185Ter
NM_001641.4:c.587_603dup MANE Select	NP_001632.2:p.Arg202Ter
NM_001244249.2:c.587_603dup	NP_001231178.1:p.Arg202Ter
NM_080648.3:c.587_603dup	NP_542379.1:p.Arg202Ter
NM_080649.3:c.587_603dup	NP_542380.1:p.Arg202Ter