Canonical Allele Identifier: CA7081616

Gene: APEX1

Linked Data

• dbSNP Id: rs772601826
• ExAC: 14:20925329 CTG / C
• gnomAD v2: 14-20925329-CTG-C
• gnomAD v3: 14-20457170-CTG-C
• gnomAD v4: 14-20457170-CTG-C
• MyVariant Identifiers: chr14:g.20925330_20925331del (hg19) ; chr14:g.20457171_20457172del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457175_20457176del , CM000676.2:g.20457175_20457176del	GRCh38
NC_000014.8:g.20925334_20925335del , CM000676.1:g.20925334_20925335del	GRCh37
NC_000014.7:g.19995174_19995175del	NCBI36
NG_008718.1:g.7045_7046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.624_625del MANE Select	ENSP00000216714.3:p.Cys208TrpfsTer8
ENST00000216714.7:c.624_625del	ENSP00000216714.3:p.Cys208TrpfsTer8
ENST00000398030.8:c.624_625del	ENSP00000381111.4:p.Cys208TrpfsTer8
ENST00000438886.1:c.404_405del
ENST00000553555.5:n.1044_1045del
ENST00000553681.5:c.624_625del	ENSP00000451327.1:p.Cys208TrpfsTer8
ENST00000555414.5:c.624_625del	ENSP00000451979.1:p.Cys208TrpfsTer8
ENST00000555839.5:c.537_538del	ENSP00000452460.1:p.Cys179TrpfsTer8
ENST00000557054.1:c.*35_*36del	ENSP00000452212.2:n.*35_*36del
ENST00000557159.5:n.1240_1241del
ENST00000557365.1:n.704_705del
NM_001244249.1:c.624_625del	NP_001231178.1:p.Cys208TrpfsTer8
NM_001641.3:c.624_625del	NP_001632.2:p.Cys208TrpfsTer8
NM_080648.2:c.624_625del	NP_542379.1:p.Cys208TrpfsTer8
NM_080649.2:c.624_625del	NP_542380.1:p.Cys208TrpfsTer8
XM_005267581.3:c.624_625del	XP_005267638.1:p.Cys208TrpfsTer8
XM_005267582.3:c.573_574del	XP_005267639.1:p.Cys191TrpfsTer8
NM_001641.4:c.624_625del MANE Select	NP_001632.2:p.Cys208TrpfsTer8
NM_001244249.2:c.624_625del	NP_001231178.1:p.Cys208TrpfsTer8
NM_080648.3:c.624_625del	NP_542379.1:p.Cys208TrpfsTer8
NM_080649.3:c.624_625del	NP_542380.1:p.Cys208TrpfsTer8