Canonical Allele Identifier: CA2122040806

Gene: APEX1

Linked Data

• dbSNP Id: rs1881380282

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456672_20456673dup , CM000676.2:g.20456672_20456673dup	GRCh38
NC_000014.8:g.20924831_20924832dup , CM000676.1:g.20924831_20924832dup	GRCh37
NC_000014.7:g.19994671_19994672dup	NCBI36
NG_008718.1:g.6542_6543dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.251_252dup MANE Select	ENSP00000216714.3:p.Lys85Ter
ENST00000216714.7:c.251_252dup	ENSP00000216714.3:p.Lys85Ter
ENST00000398030.8:c.251_252dup	ENSP00000381111.4:p.Lys85Ter
ENST00000438886.1:c.100_101dup
ENST00000553555.5:n.671_672dup
ENST00000553681.5:c.251_252dup	ENSP00000451327.1:p.Lys85Ter
ENST00000554325.1:c.*171_*172dup	ENSP00000450604.1:n.*171_*172dup
ENST00000554813.5:n.317_318dup
ENST00000555306.5:n.698_699dup
ENST00000555414.5:c.251_252dup	ENSP00000451979.1:p.Lys85Ter
ENST00000555839.5:c.251_252dup	ENSP00000452460.1:p.Lys85Ter
ENST00000556054.5:c.251_252dup	ENSP00000451170.1:p.Lys85Ter
ENST00000557054.1:c.28-451_28-450dup	ENSP00000452212.2:n.28-451_28-450dup
ENST00000557150.5:c.200_201dup	ENSP00000452418.1:p.Lys68Ter
ENST00000557159.5:n.867_868dup
ENST00000557181.5:c.251_252dup	ENSP00000452304.1:p.Lys85Ter
ENST00000557344.5:c.251_252dup	ENSP00000452137.1:p.Lys85Ter
ENST00000557365.1:n.331_332dup
ENST00000557592.5:c.200_201dup	ENSP00000451060.1:p.Lys68Ter
NM_001244249.1:c.251_252dup	NP_001231178.1:p.Lys85Ter
NM_001641.3:c.251_252dup	NP_001632.2:p.Lys85Ter
NM_080648.2:c.251_252dup	NP_542379.1:p.Lys85Ter
NM_080649.2:c.251_252dup	NP_542380.1:p.Lys85Ter
XM_005267581.3:c.251_252dup	XP_005267638.1:p.Lys85Ter
XM_005267582.3:c.200_201dup	XP_005267639.1:p.Lys68Ter
NM_001641.4:c.251_252dup MANE Select	NP_001632.2:p.Lys85Ter
NM_001244249.2:c.251_252dup	NP_001231178.1:p.Lys85Ter
NM_080648.3:c.251_252dup	NP_542379.1:p.Lys85Ter
NM_080649.3:c.251_252dup	NP_542380.1:p.Lys85Ter