Canonical Allele Identifier: CA2624007204

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457073-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457074dup , CM000676.2:g.20457074dup	GRCh38
NC_000014.8:g.20925233dup , CM000676.1:g.20925233dup	GRCh37
NC_000014.7:g.19995073dup	NCBI36
NG_008718.1:g.6944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.523dup MANE Select	ENSP00000216714.3:p.Ala175GlyfsTer16
ENST00000216714.7:c.523dup	ENSP00000216714.3:p.Ala175GlyfsTer16
ENST00000398030.8:c.523dup	ENSP00000381111.4:p.Ala175GlyfsTer16
ENST00000438886.1:c.303dup
ENST00000553555.5:n.943dup
ENST00000553681.5:c.523dup	ENSP00000451327.1:p.Ala175GlyfsTer16
ENST00000554813.5:n.589dup
ENST00000555414.5:c.523dup	ENSP00000451979.1:p.Ala175GlyfsTer16
ENST00000555839.5:c.440-4dup	ENSP00000452460.1:n.440-4dup
ENST00000557054.1:c.28-49dup	ENSP00000452212.2:n.28-49dup
ENST00000557150.5:c.472dup	ENSP00000452418.1:p.Ala158GlyfsTer?
ENST00000557159.5:n.1139dup
ENST00000557365.1:n.603dup
ENST00000557592.5:c.472dup	ENSP00000451060.1:p.Ala158GlyfsTer?
NM_001244249.1:c.523dup	NP_001231178.1:p.Ala175GlyfsTer16
NM_001641.3:c.523dup	NP_001632.2:p.Ala175GlyfsTer16
NM_080648.2:c.523dup	NP_542379.1:p.Ala175GlyfsTer16
NM_080649.2:c.523dup	NP_542380.1:p.Ala175GlyfsTer16
XM_005267581.3:c.523dup	XP_005267638.1:p.Ala175GlyfsTer16
XM_005267582.3:c.472dup	XP_005267639.1:p.Ala158GlyfsTer16
NM_001641.4:c.523dup MANE Select	NP_001632.2:p.Ala175GlyfsTer16
NM_001244249.2:c.523dup	NP_001231178.1:p.Ala175GlyfsTer16
NM_080648.3:c.523dup	NP_542379.1:p.Ala175GlyfsTer16
NM_080649.3:c.523dup	NP_542380.1:p.Ala175GlyfsTer16