Canonical Allele Identifier: CA2624007459

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457229-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457233_20457234del , CM000676.2:g.20457233_20457234del	GRCh38
NC_000014.8:g.20925392_20925393del , CM000676.1:g.20925392_20925393del	GRCh37
NC_000014.7:g.19995232_19995233del	NCBI36
NG_008718.1:g.7103_7104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.682_683del MANE Select	ENSP00000216714.3:p.Lys228GlufsTer23
ENST00000216714.7:c.682_683del	ENSP00000216714.3:p.Lys228GlufsTer23
ENST00000398030.8:c.682_683del	ENSP00000381111.4:p.Lys228GlufsTer23
ENST00000553555.5:n.1102_1103del
ENST00000553681.5:c.682_683del	ENSP00000451327.1:p.Lys228GlufsTer23
ENST00000555414.5:c.682_683del	ENSP00000451979.1:p.Lys228GlufsTer23
ENST00000555839.5:c.595_596del	ENSP00000452460.1:p.Lys199GlufsTer23
ENST00000557054.1:c.*93_*94del	ENSP00000452212.2:n.*93_*94del
ENST00000557159.5:n.1298_1299del
ENST00000557365.1:n.762_763del
NM_001244249.1:c.682_683del	NP_001231178.1:p.Lys228GlufsTer23
NM_001641.3:c.682_683del	NP_001632.2:p.Lys228GlufsTer23
NM_080648.2:c.682_683del	NP_542379.1:p.Lys228GlufsTer23
NM_080649.2:c.682_683del	NP_542380.1:p.Lys228GlufsTer23
XM_005267581.3:c.682_683del	XP_005267638.1:p.Lys228GlufsTer23
XM_005267582.3:c.631_632del	XP_005267639.1:p.Lys211GlufsTer23
NM_001641.4:c.682_683del MANE Select	NP_001632.2:p.Lys228GlufsTer23
NM_001244249.2:c.682_683del	NP_001231178.1:p.Lys228GlufsTer23
NM_080648.3:c.682_683del	NP_542379.1:p.Lys228GlufsTer23
NM_080649.3:c.682_683del	NP_542380.1:p.Lys228GlufsTer23