Canonical Allele Identifier: CA2624007202

Gene: APEX1

Linked Data

• gnomAD v4: 14-20456994-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456994_20456995insG , CM000676.2:g.20456994_20456995insG	GRCh38
NC_000014.8:g.20925153_20925154insG , CM000676.1:g.20925153_20925154insG	GRCh37
NC_000014.7:g.19994993_19994994insG	NCBI36
NG_008718.1:g.6864_6865insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.443_444insG MANE Select	ENSP00000216714.3:p.Asp148GlufsTer2
ENST00000216714.7:c.443_444insG	ENSP00000216714.3:p.Asp148GlufsTer2
ENST00000398030.8:c.443_444insG	ENSP00000381111.4:p.Asp148GlufsTer2
ENST00000438886.1:c.289-66_289-65insG
ENST00000553555.5:n.863_864insG
ENST00000553681.5:c.443_444insG	ENSP00000451327.1:p.Asp148GlufsTer2
ENST00000554813.5:n.509_510insG
ENST00000555306.5:n.890_891insG
ENST00000555414.5:c.443_444insG	ENSP00000451979.1:p.Asp148GlufsTer2
ENST00000555839.5:c.440-84_440-83insG	ENSP00000452460.1:n.440-84_440-83insG
ENST00000556054.5:c.443_444insG	ENSP00000451170.1:p.Asp148GlufsTer2
ENST00000557054.1:c.28-129_28-128insG	ENSP00000452212.2:n.28-129_28-128insG
ENST00000557150.5:c.392_393insG	ENSP00000452418.1:p.Asp131GlufsTer2
ENST00000557159.5:n.1059_1060insG
ENST00000557365.1:n.523_524insG
ENST00000557592.5:c.392_393insG	ENSP00000451060.1:p.Asp131GlufsTer2
NM_001244249.1:c.443_444insG	NP_001231178.1:p.Asp148GlufsTer2
NM_001641.3:c.443_444insG	NP_001632.2:p.Asp148GlufsTer2
NM_080648.2:c.443_444insG	NP_542379.1:p.Asp148GlufsTer2
NM_080649.2:c.443_444insG	NP_542380.1:p.Asp148GlufsTer2
XM_005267581.3:c.443_444insG	XP_005267638.1:p.Asp148GlufsTer2
XM_005267582.3:c.392_393insG	XP_005267639.1:p.Asp131GlufsTer2
NM_001641.4:c.443_444insG MANE Select	NP_001632.2:p.Asp148GlufsTer2
NM_001244249.2:c.443_444insG	NP_001231178.1:p.Asp148GlufsTer2
NM_080648.3:c.443_444insG	NP_542379.1:p.Asp148GlufsTer2
NM_080649.3:c.443_444insG	NP_542380.1:p.Asp148GlufsTer2