Canonical Allele Identifier: CA2122041306

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456912_20456916delinsTTCTC , CM000676.2:g.20456912_20456916delinsTTCTC	GRCh38
NC_000014.8:g.20925071_20925075delinsTTCTC , CM000676.1:g.20925071_20925075delinsTTCTC	GRCh37
NC_000014.7:g.19994911_19994915delinsTTCTC	NCBI36
NG_008718.1:g.6782_6786delinsTTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.439+52_439+56delinsTTCTC MANE Select	ENSP00000216714.3:n.439+52_439+56delinsTTCTC
ENST00000216714.7:c.439+52_439+56delinsTTCTC	ENSP00000216714.3:n.439+52_439+56delinsTTCTC
ENST00000398030.8:c.439+52_439+56delinsTTCTC	ENSP00000381111.4:n.439+52_439+56delinsTTCTC
ENST00000438886.1:c.288+52_288+56delinsTTCTC
ENST00000553555.5:n.859+52_859+56delinsTTCTC
ENST00000553681.5:c.439+52_439+56delinsTTCTC	ENSP00000451327.1:n.439+52_439+56delinsTTCTC
ENST00000554813.5:n.505+52_505+56delinsTTCTC
ENST00000555306.5:n.886+52_886+56delinsTTCTC
ENST00000555414.5:c.439+52_439+56delinsTTCTC	ENSP00000451979.1:n.439+52_439+56delinsTTCTC
ENST00000555839.5:c.439+52_439+56delinsTTCTC	ENSP00000452460.1:n.439+52_439+56delinsTTCTC
ENST00000556054.5:c.439+52_439+56delinsTTCTC	ENSP00000451170.1:n.439+52_439+56delinsTTCTC
ENST00000557054.1:c.28-211_28-207delinsTTCTC	ENSP00000452212.2:n.28-211_28-207delinsTTCTC
ENST00000557150.5:c.388+52_388+56delinsTTCTC	ENSP00000452418.1:n.388+52_388+56delinsTTCTC
ENST00000557159.5:n.1055+52_1055+56delinsTTCTC
ENST00000557365.1:n.519+52_519+56delinsTTCTC
ENST00000557592.5:c.388+52_388+56delinsTTCTC	ENSP00000451060.1:n.388+52_388+56delinsTTCTC
NM_001244249.1:c.439+52_439+56delinsTTCTC	NP_001231178.1:n.439+52_439+56delinsTTCTC
NM_001641.3:c.439+52_439+56delinsTTCTC	NP_001632.2:n.439+52_439+56delinsTTCTC
NM_080648.2:c.439+52_439+56delinsTTCTC	NP_542379.1:n.439+52_439+56delinsTTCTC
NM_080649.2:c.439+52_439+56delinsTTCTC	NP_542380.1:n.439+52_439+56delinsTTCTC
XM_005267581.3:c.439+52_439+56delinsTTCTC	XP_005267638.1:n.439+52_439+56delinsTTCTC
XM_005267582.3:c.388+52_388+56delinsTTCTC	XP_005267639.1:n.388+52_388+56delinsTTCTC
NM_001641.4:c.439+52_439+56delinsTTCTC MANE Select	NP_001632.2:n.439+52_439+56delinsTTCTC
NM_001244249.2:c.439+52_439+56delinsTTCTC	NP_001231178.1:n.439+52_439+56delinsTTCTC
NM_080648.3:c.439+52_439+56delinsTTCTC	NP_542379.1:n.439+52_439+56delinsTTCTC
NM_080649.3:c.439+52_439+56delinsTTCTC	NP_542380.1:n.439+52_439+56delinsTTCTC