Canonical Allele Identifier: CA612862177

Gene: APEX1

Linked Data

• dbSNP Id: rs1451243040
• gnomAD v2: 14-20925438-T-TA
• gnomAD v4: 14-20457279-T-TA
• MyVariant Identifiers: chr14:g.20925438_20925439insA (hg19) ; chr14:g.20457279_20457280insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457280dup , CM000676.2:g.20457280dup	GRCh38
NC_000014.8:g.20925439dup , CM000676.1:g.20925439dup	GRCh37
NC_000014.7:g.19995279dup	NCBI36
NG_008718.1:g.7150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.729dup MANE Select	ENSP00000216714.3:p.Leu244ThrfsTer8
ENST00000216714.7:c.729dup	ENSP00000216714.3:p.Leu244ThrfsTer8
ENST00000398030.8:c.729dup	ENSP00000381111.4:p.Leu244ThrfsTer8
ENST00000553555.5:n.1149dup
ENST00000553681.5:c.729dup	ENSP00000451327.1:p.Leu244ThrfsTer8
ENST00000555414.5:c.729dup	ENSP00000451979.1:p.Leu244ThrfsTer8
ENST00000555839.5:c.642dup	ENSP00000452460.1:p.Leu215ThrfsTer8
ENST00000557054.1:c.*140dup	ENSP00000452212.2:n.*140dup
ENST00000557159.5:n.1345dup
ENST00000557365.1:n.809dup
NM_001244249.1:c.729dup	NP_001231178.1:p.Leu244ThrfsTer8
NM_001641.3:c.729dup	NP_001632.2:p.Leu244ThrfsTer8
NM_080648.2:c.729dup	NP_542379.1:p.Leu244ThrfsTer8
NM_080649.2:c.729dup	NP_542380.1:p.Leu244ThrfsTer8
XM_005267581.3:c.729dup	XP_005267638.1:p.Leu244ThrfsTer8
XM_005267582.3:c.678dup	XP_005267639.1:p.Leu227ThrfsTer8
NM_001641.4:c.729dup MANE Select	NP_001632.2:p.Leu244ThrfsTer8
NM_001244249.2:c.729dup	NP_001231178.1:p.Leu244ThrfsTer8
NM_080648.3:c.729dup	NP_542379.1:p.Leu244ThrfsTer8
NM_080649.3:c.729dup	NP_542380.1:p.Leu244ThrfsTer8