Canonical Allele Identifier: CA2122041894

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457170_20457172delinsCTG , CM000676.2:g.20457170_20457172delinsCTG	GRCh38
NC_000014.8:g.20925329_20925331delinsCTG , CM000676.1:g.20925329_20925331delinsCTG	GRCh37
NC_000014.7:g.19995169_19995171delinsCTG	NCBI36
NG_008718.1:g.7040_7042delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.619_621delinsCTG MANE Select	ENSP00000216714.3:p.Leu207=
ENST00000216714.7:c.619_621delinsCTG	ENSP00000216714.3:p.Leu207=
ENST00000398030.8:c.619_621delinsCTG	ENSP00000381111.4:p.Leu207=
ENST00000438886.1:c.399_401delinsCTG
ENST00000553555.5:n.1039_1041delinsCTG
ENST00000553681.5:c.619_621delinsCTG	ENSP00000451327.1:p.Leu207=
ENST00000555414.5:c.619_621delinsCTG	ENSP00000451979.1:p.Leu207=
ENST00000555839.5:c.532_534delinsCTG	ENSP00000452460.1:p.Leu178=
ENST00000557054.1:c.*30_*32delinsCTG	ENSP00000452212.2:n.*30_*32delinsCTG
ENST00000557159.5:n.1235_1237delinsCTG
ENST00000557365.1:n.699_701delinsCTG
NM_001244249.1:c.619_621delinsCTG	NP_001231178.1:p.Leu207=
NM_001641.3:c.619_621delinsCTG	NP_001632.2:p.Leu207=
NM_080648.2:c.619_621delinsCTG	NP_542379.1:p.Leu207=
NM_080649.2:c.619_621delinsCTG	NP_542380.1:p.Leu207=
XM_005267581.3:c.619_621delinsCTG	XP_005267638.1:p.Leu207=
XM_005267582.3:c.568_570delinsCTG	XP_005267639.1:p.Leu190=
NM_001641.4:c.619_621delinsCTG MANE Select	NP_001632.2:p.Leu207=
NM_001244249.2:c.619_621delinsCTG	NP_001231178.1:p.Leu207=
NM_080648.3:c.619_621delinsCTG	NP_542379.1:p.Leu207=
NM_080649.3:c.619_621delinsCTG	NP_542380.1:p.Leu207=