Canonical Allele Identifier: CA2624007312

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457147-T-TGGCTTCCCGAAAGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457148_20457164dup , CM000676.2:g.20457148_20457164dup	GRCh38
NC_000014.8:g.20925307_20925323dup , CM000676.1:g.20925307_20925323dup	GRCh37
NC_000014.7:g.19995147_19995163dup	NCBI36
NG_008718.1:g.7018_7034dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.597_613dup MANE Select	ENSP00000216714.3:p.Leu205ArgfsTer?
ENST00000216714.7:c.597_613dup	ENSP00000216714.3:p.Leu205ArgfsTer?
ENST00000398030.8:c.597_613dup	ENSP00000381111.4:p.Leu205ArgfsTer?
ENST00000438886.1:c.377_393dup
ENST00000553555.5:n.1017_1033dup
ENST00000553681.5:c.597_613dup	ENSP00000451327.1:p.Leu205ArgfsTer?
ENST00000555414.5:c.597_613dup	ENSP00000451979.1:p.Leu205ArgfsTer?
ENST00000555839.5:c.510_526dup	ENSP00000452460.1:p.Leu176ArgfsTer?
ENST00000557054.1:c.*8_*24dup	ENSP00000452212.2:n.*8_*24dup
ENST00000557159.5:n.1213_1229dup
ENST00000557365.1:n.677_693dup
NM_001244249.1:c.597_613dup	NP_001231178.1:p.Leu205ArgfsTer?
NM_001641.3:c.597_613dup	NP_001632.2:p.Leu205ArgfsTer?
NM_080648.2:c.597_613dup	NP_542379.1:p.Leu205ArgfsTer?
NM_080649.2:c.597_613dup	NP_542380.1:p.Leu205ArgfsTer?
XM_005267581.3:c.597_613dup	XP_005267638.1:p.Leu205ArgfsTer?
XM_005267582.3:c.546_562dup	XP_005267639.1:p.Leu188ArgfsTer?
NM_001641.4:c.597_613dup MANE Select	NP_001632.2:p.Leu205ArgfsTer?
NM_001244249.2:c.597_613dup	NP_001231178.1:p.Leu205ArgfsTer?
NM_080648.3:c.597_613dup	NP_542379.1:p.Leu205ArgfsTer?
NM_080649.3:c.597_613dup	NP_542380.1:p.Leu205ArgfsTer?