Canonical Allele Identifier: CA2575472208

Gene: APEX1

Linked Data

• gnomAD v4: 14-20456664-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456665del , CM000676.2:g.20456665del	GRCh38
NC_000014.8:g.20924824del , CM000676.1:g.20924824del	GRCh37
NC_000014.7:g.19994664del	NCBI36
NG_008718.1:g.6535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.247-3del MANE Select	ENSP00000216714.3:n.247-3del
ENST00000216714.7:c.247-3del	ENSP00000216714.3:n.247-3del
ENST00000398030.8:c.247-3del	ENSP00000381111.4:n.247-3del
ENST00000438886.1:c.96-3del
ENST00000553555.5:n.667-3del
ENST00000553681.5:c.247-3del	ENSP00000451327.1:n.247-3del
ENST00000554325.1:c.*167-3del	ENSP00000450604.1:n.*167-3del
ENST00000554813.5:n.313-3del
ENST00000555306.5:n.694-3del
ENST00000555414.5:c.247-3del	ENSP00000451979.1:n.247-3del
ENST00000555839.5:c.247-3del	ENSP00000452460.1:n.247-3del
ENST00000556054.5:c.247-3del	ENSP00000451170.1:n.247-3del
ENST00000557054.1:c.28-458del	ENSP00000452212.2:n.28-458del
ENST00000557150.5:c.196-3del	ENSP00000452418.1:n.196-3del
ENST00000557159.5:n.863-3del
ENST00000557181.5:c.247-3del	ENSP00000452304.1:n.247-3del
ENST00000557344.5:c.247-3del	ENSP00000452137.1:n.247-3del
ENST00000557365.1:n.327-3del
ENST00000557592.5:c.196-3del	ENSP00000451060.1:n.196-3del
NM_001244249.1:c.247-3del	NP_001231178.1:n.247-3del
NM_001641.3:c.247-3del	NP_001632.2:n.247-3del
NM_080648.2:c.247-3del	NP_542379.1:n.247-3del
NM_080649.2:c.247-3del	NP_542380.1:n.247-3del
XM_005267581.3:c.247-3del	XP_005267638.1:n.247-3del
XM_005267582.3:c.196-3del	XP_005267639.1:n.196-3del
NM_001641.4:c.247-3del MANE Select	NP_001632.2:n.247-3del
NM_001244249.2:c.247-3del	NP_001231178.1:n.247-3del
NM_080648.3:c.247-3del	NP_542379.1:n.247-3del
NM_080649.3:c.247-3del	NP_542380.1:n.247-3del