Canonical Allele Identifier: CA2122040765

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456663_20456664delinsTA , CM000676.2:g.20456663_20456664delinsTA	GRCh38
NC_000014.8:g.20924822_20924823delinsTA , CM000676.1:g.20924822_20924823delinsTA	GRCh37
NC_000014.7:g.19994662_19994663delinsTA	NCBI36
NG_008718.1:g.6533_6534delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.247-5_247-4delinsTA MANE Select	ENSP00000216714.3:n.247-5_247-4delinsTA
ENST00000216714.7:c.247-5_247-4delinsTA	ENSP00000216714.3:n.247-5_247-4delinsTA
ENST00000398030.8:c.247-5_247-4delinsTA	ENSP00000381111.4:n.247-5_247-4delinsTA
ENST00000438886.1:c.96-5_96-4delinsTA
ENST00000553555.5:n.667-5_667-4delinsTA
ENST00000553681.5:c.247-5_247-4delinsTA	ENSP00000451327.1:n.247-5_247-4delinsTA
ENST00000554325.1:c.*167-5_*167-4delinsTA	ENSP00000450604.1:n.*167-5_*167-4delinsTA
ENST00000554813.5:n.313-5_313-4delinsTA
ENST00000555306.5:n.694-5_694-4delinsTA
ENST00000555414.5:c.247-5_247-4delinsTA	ENSP00000451979.1:n.247-5_247-4delinsTA
ENST00000555839.5:c.247-5_247-4delinsTA	ENSP00000452460.1:n.247-5_247-4delinsTA
ENST00000556054.5:c.247-5_247-4delinsTA	ENSP00000451170.1:n.247-5_247-4delinsTA
ENST00000557054.1:c.28-460_28-459delinsTA	ENSP00000452212.2:n.28-460_28-459delinsTA
ENST00000557150.5:c.196-5_196-4delinsTA	ENSP00000452418.1:n.196-5_196-4delinsTA
ENST00000557159.5:n.863-5_863-4delinsTA
ENST00000557181.5:c.247-5_247-4delinsTA	ENSP00000452304.1:n.247-5_247-4delinsTA
ENST00000557344.5:c.247-5_247-4delinsTA	ENSP00000452137.1:n.247-5_247-4delinsTA
ENST00000557365.1:n.327-5_327-4delinsTA
ENST00000557592.5:c.196-5_196-4delinsTA	ENSP00000451060.1:n.196-5_196-4delinsTA
NM_001244249.1:c.247-5_247-4delinsTA	NP_001231178.1:n.247-5_247-4delinsTA
NM_001641.3:c.247-5_247-4delinsTA	NP_001632.2:n.247-5_247-4delinsTA
NM_080648.2:c.247-5_247-4delinsTA	NP_542379.1:n.247-5_247-4delinsTA
NM_080649.2:c.247-5_247-4delinsTA	NP_542380.1:n.247-5_247-4delinsTA
XM_005267581.3:c.247-5_247-4delinsTA	XP_005267638.1:n.247-5_247-4delinsTA
XM_005267582.3:c.196-5_196-4delinsTA	XP_005267639.1:n.196-5_196-4delinsTA
NM_001641.4:c.247-5_247-4delinsTA MANE Select	NP_001632.2:n.247-5_247-4delinsTA
NM_001244249.2:c.247-5_247-4delinsTA	NP_001231178.1:n.247-5_247-4delinsTA
NM_080648.3:c.247-5_247-4delinsTA	NP_542379.1:n.247-5_247-4delinsTA
NM_080649.3:c.247-5_247-4delinsTA	NP_542380.1:n.247-5_247-4delinsTA