Canonical Allele Identifier: CA2122041843

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457152_20457153delinsTC , CM000676.2:g.20457152_20457153delinsTC	GRCh38
NC_000014.8:g.20925311_20925312delinsTC , CM000676.1:g.20925311_20925312delinsTC	GRCh37
NC_000014.7:g.19995151_19995152delinsTC	NCBI36
NG_008718.1:g.7022_7023delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.601_602delinsTC MANE Select	ENSP00000216714.3:p.Ser201=
ENST00000216714.7:c.601_602delinsTC	ENSP00000216714.3:p.Ser201=
ENST00000398030.8:c.601_602delinsTC	ENSP00000381111.4:p.Ser201=
ENST00000438886.1:c.381_382delinsTC
ENST00000553555.5:n.1021_1022delinsTC
ENST00000553681.5:c.601_602delinsTC	ENSP00000451327.1:p.Ser201=
ENST00000555414.5:c.601_602delinsTC	ENSP00000451979.1:p.Ser201=
ENST00000555839.5:c.514_515delinsTC	ENSP00000452460.1:p.Ser172=
ENST00000557054.1:c.*12_*13delinsTC	ENSP00000452212.2:n.*12_*13delinsTC
ENST00000557159.5:n.1217_1218delinsTC
ENST00000557365.1:n.681_682delinsTC
NM_001244249.1:c.601_602delinsTC	NP_001231178.1:p.Ser201=
NM_001641.3:c.601_602delinsTC	NP_001632.2:p.Ser201=
NM_080648.2:c.601_602delinsTC	NP_542379.1:p.Ser201=
NM_080649.2:c.601_602delinsTC	NP_542380.1:p.Ser201=
XM_005267581.3:c.601_602delinsTC	XP_005267638.1:p.Ser201=
XM_005267582.3:c.550_551delinsTC	XP_005267639.1:p.Ser184=
NM_001641.4:c.601_602delinsTC MANE Select	NP_001632.2:p.Ser201=
NM_001244249.2:c.601_602delinsTC	NP_001231178.1:p.Ser201=
NM_080648.3:c.601_602delinsTC	NP_542379.1:p.Ser201=
NM_080649.3:c.601_602delinsTC	NP_542380.1:p.Ser201=