Canonical Allele Identifier: CA2122041343

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456933_20456935delinsCTT , CM000676.2:g.20456933_20456935delinsCTT	GRCh38
NC_000014.8:g.20925092_20925094delinsCTT , CM000676.1:g.20925092_20925094delinsCTT	GRCh37
NC_000014.7:g.19994932_19994934delinsCTT	NCBI36
NG_008718.1:g.6803_6805delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.440-58_440-56delinsCTT MANE Select	ENSP00000216714.3:n.440-58_440-56delinsCTT
ENST00000216714.7:c.440-58_440-56delinsCTT	ENSP00000216714.3:n.440-58_440-56delinsCTT
ENST00000398030.8:c.440-58_440-56delinsCTT	ENSP00000381111.4:n.440-58_440-56delinsCTT
ENST00000438886.1:c.288+73_288+75delinsCTT
ENST00000553555.5:n.860-58_860-56delinsCTT
ENST00000553681.5:c.440-58_440-56delinsCTT	ENSP00000451327.1:n.440-58_440-56delinsCTT
ENST00000554813.5:n.506-58_506-56delinsCTT
ENST00000555306.5:n.887-58_887-56delinsCTT
ENST00000555414.5:c.440-58_440-56delinsCTT	ENSP00000451979.1:n.440-58_440-56delinsCTT
ENST00000555839.5:c.439+73_439+75delinsCTT	ENSP00000452460.1:n.439+73_439+75delinsCTT
ENST00000556054.5:c.440-58_440-56delinsCTT	ENSP00000451170.1:n.440-58_440-56delinsCTT
ENST00000557054.1:c.28-190_28-188delinsCTT	ENSP00000452212.2:n.28-190_28-188delinsCTT
ENST00000557150.5:c.389-58_389-56delinsCTT	ENSP00000452418.1:n.389-58_389-56delinsCTT
ENST00000557159.5:n.1056-58_1056-56delinsCTT
ENST00000557365.1:n.520-58_520-56delinsCTT
ENST00000557592.5:c.389-58_389-56delinsCTT	ENSP00000451060.1:n.389-58_389-56delinsCTT
NM_001244249.1:c.440-58_440-56delinsCTT	NP_001231178.1:n.440-58_440-56delinsCTT
NM_001641.3:c.440-58_440-56delinsCTT	NP_001632.2:n.440-58_440-56delinsCTT
NM_080648.2:c.440-58_440-56delinsCTT	NP_542379.1:n.440-58_440-56delinsCTT
NM_080649.2:c.440-58_440-56delinsCTT	NP_542380.1:n.440-58_440-56delinsCTT
XM_005267581.3:c.440-58_440-56delinsCTT	XP_005267638.1:n.440-58_440-56delinsCTT
XM_005267582.3:c.389-58_389-56delinsCTT	XP_005267639.1:n.389-58_389-56delinsCTT
NM_001641.4:c.440-58_440-56delinsCTT MANE Select	NP_001632.2:n.440-58_440-56delinsCTT
NM_001244249.2:c.440-58_440-56delinsCTT	NP_001231178.1:n.440-58_440-56delinsCTT
NM_080648.3:c.440-58_440-56delinsCTT	NP_542379.1:n.440-58_440-56delinsCTT
NM_080649.3:c.440-58_440-56delinsCTT	NP_542380.1:n.440-58_440-56delinsCTT