Canonical Allele Identifier: CA2534665721

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457310_20457311insTTTTTTA , CM000676.2:g.20457310_20457311insTTTTTTA	GRCh38
NC_000014.8:g.20925469_20925470insTTTTTTA , CM000676.1:g.20925469_20925470insTTTTTTA	GRCh37
NC_000014.7:g.19995309_19995310insTTTTTTA	NCBI36
NG_008718.1:g.7180_7181insTTTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.759_760insTTTTTTA MANE Select	ENSP00000216714.3:p.Arg254PhefsTer32
ENST00000216714.7:c.759_760insTTTTTTA	ENSP00000216714.3:p.Arg254PhefsTer32
ENST00000398030.8:c.759_760insTTTTTTA	ENSP00000381111.4:p.Arg254PhefsTer32
ENST00000553555.5:n.1179_1180insTTTTTTA
ENST00000553681.5:c.759_760insTTTTTTA	ENSP00000451327.1:p.Arg254PhefsTer?
ENST00000555414.5:c.759_760insTTTTTTA	ENSP00000451979.1:p.Arg254PhefsTer32
ENST00000555839.5:c.672_673insTTTTTTA	ENSP00000452460.1:p.Arg225PhefsTer?
ENST00000557054.1:c.*170_*171insTTTTTTA	ENSP00000452212.2:n.*170_*171insTTTTTTA
ENST00000557159.5:n.1375_1376insTTTTTTA
NM_001244249.1:c.759_760insTTTTTTA	NP_001231178.1:p.Arg254PhefsTer32
NM_001641.3:c.759_760insTTTTTTA	NP_001632.2:p.Arg254PhefsTer32
NM_080648.2:c.759_760insTTTTTTA	NP_542379.1:p.Arg254PhefsTer32
NM_080649.2:c.759_760insTTTTTTA	NP_542380.1:p.Arg254PhefsTer32
XM_005267581.3:c.759_760insTTTTTTA	XP_005267638.1:p.Arg254PhefsTer32
XM_005267582.3:c.708_709insTTTTTTA	XP_005267639.1:p.Arg237PhefsTer32
NM_001641.4:c.759_760insTTTTTTA MANE Select	NP_001632.2:p.Arg254PhefsTer32
NM_001244249.2:c.759_760insTTTTTTA	NP_001231178.1:p.Arg254PhefsTer32
NM_080648.3:c.759_760insTTTTTTA	NP_542379.1:p.Arg254PhefsTer32
NM_080649.3:c.759_760insTTTTTTA	NP_542380.1:p.Arg254PhefsTer32