Canonical Allele Identifier: CA2122040952

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456745_20456746delinsTC , CM000676.2:g.20456745_20456746delinsTC	GRCh38
NC_000014.8:g.20924904_20924905delinsTC , CM000676.1:g.20924904_20924905delinsTC	GRCh37
NC_000014.7:g.19994744_19994745delinsTC	NCBI36
NG_008718.1:g.6615_6616delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.324_325delinsTC MANE Select	ENSP00000216714.3:p.Leu108=
ENST00000216714.7:c.324_325delinsTC	ENSP00000216714.3:p.Leu108=
ENST00000398030.8:c.324_325delinsTC	ENSP00000381111.4:p.Leu108=
ENST00000438886.1:c.173_174delinsTC
ENST00000553555.5:n.744_745delinsTC
ENST00000553681.5:c.324_325delinsTC	ENSP00000451327.1:p.Leu108=
ENST00000554813.5:n.390_391delinsTC
ENST00000555306.5:n.771_772delinsTC
ENST00000555414.5:c.324_325delinsTC	ENSP00000451979.1:p.Leu108=
ENST00000555839.5:c.324_325delinsTC	ENSP00000452460.1:p.Leu108=
ENST00000556054.5:c.324_325delinsTC	ENSP00000451170.1:p.Leu108=
ENST00000557054.1:c.28-378_28-377delinsTC	ENSP00000452212.2:n.28-378_28-377delinsTC
ENST00000557150.5:c.273_274delinsTC	ENSP00000452418.1:p.Leu91=
ENST00000557159.5:n.940_941delinsTC
ENST00000557344.5:c.324_325delinsTC	ENSP00000452137.1:p.Leu108=
ENST00000557365.1:n.404_405delinsTC
ENST00000557592.5:c.273_274delinsTC	ENSP00000451060.1:p.Leu91=
NM_001244249.1:c.324_325delinsTC	NP_001231178.1:p.Leu108=
NM_001641.3:c.324_325delinsTC	NP_001632.2:p.Leu108=
NM_080648.2:c.324_325delinsTC	NP_542379.1:p.Leu108=
NM_080649.2:c.324_325delinsTC	NP_542380.1:p.Leu108=
XM_005267581.3:c.324_325delinsTC	XP_005267638.1:p.Leu108=
XM_005267582.3:c.273_274delinsTC	XP_005267639.1:p.Leu91=
NM_001641.4:c.324_325delinsTC MANE Select	NP_001632.2:p.Leu108=
NM_001244249.2:c.324_325delinsTC	NP_001231178.1:p.Leu108=
NM_080648.3:c.324_325delinsTC	NP_542379.1:p.Leu108=
NM_080649.3:c.324_325delinsTC	NP_542380.1:p.Leu108=