Canonical Allele Identifier: CA2624006976

Gene: APEX1

Linked Data

• gnomAD v4: 14-20456083-TAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456089_20456091del , CM000676.2:g.20456089_20456091del	GRCh38
NC_000014.8:g.20924248_20924250del , CM000676.1:g.20924248_20924250del	GRCh37
NC_000014.7:g.19994088_19994090del	NCBI36
NG_008718.1:g.5959_5961del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216714.8:c.234_236del MANE Select	ENSP00000216714.3:p.Lys79del
ENST00000216714.7:c.234_236del	ENSP00000216714.3:p.Lys79del
ENST00000398030.8:c.234_236del	ENSP00000381111.4:p.Lys79del
ENST00000438886.1:c.83_85del
ENST00000553555.5:n.654_656del
ENST00000553681.5:c.234_236del	ENSP00000451327.1:p.Lys79del
ENST00000554325.1:c.*154_*156del	ENSP00000450604.1:n.*154_*156del
ENST00000554813.5:n.300_302del
ENST00000555306.5:n.681_683del
ENST00000555414.5:c.234_236del	ENSP00000451979.1:p.Lys79del
ENST00000555839.5:c.234_236del	ENSP00000452460.1:p.Lys79del
ENST00000556054.5:c.234_236del	ENSP00000451170.1:p.Lys79del
ENST00000557054.1:c.27+417_27+419del	ENSP00000452212.2:n.27+417_27+419del
ENST00000557150.5:c.183_185del	ENSP00000452418.1:p.Lys62del
ENST00000557159.5:n.850_852del
ENST00000557181.5:c.234_236del	ENSP00000452304.1:p.Lys79del
ENST00000557344.5:c.234_236del	ENSP00000452137.1:p.Lys79del
ENST00000557365.1:n.314_316del
ENST00000557592.5:c.183_185del	ENSP00000451060.1:p.Lys62del
NM_001244249.1:c.234_236del	NP_001231178.1:p.Lys79del
NM_001641.3:c.234_236del	NP_001632.2:p.Lys79del
NM_080648.2:c.234_236del	NP_542379.1:p.Lys79del
NM_080649.2:c.234_236del	NP_542380.1:p.Lys79del
XM_005267581.3:c.234_236del	XP_005267638.1:p.Lys79del
XM_005267582.3:c.183_185del	XP_005267639.1:p.Lys62del
NM_001641.4:c.234_236del MANE Select	NP_001632.2:p.Lys79del
NM_001244249.2:c.234_236del	NP_001231178.1:p.Lys79del
NM_080648.3:c.234_236del	NP_542379.1:p.Lys79del
NM_080649.3:c.234_236del	NP_542380.1:p.Lys79del