Canonical Allele Identifier: CA9752029

Gene: PRNP

Linked Data

• dbSNP Id: rs755064098
• ExAC: 20:4680071 CATG / C
• gnomAD v2: 20-4680071-CATG-C
• gnomAD v4: 20-4699425-CATG-C
• MyVariant Identifiers: chr20:g.4680072_4680074del (hg19) ; chr20:g.4680072_4680118delinsGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT (hg19) ; chr20:g.4699426_4699428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699426_4699428del , CM000682.2:g.4699426_4699428del	GRCh38
NC_000020.10:g.4680072_4680074del , CM000682.1:g.4680072_4680074del	GRCh37
NC_000020.9:g.4628072_4628074del	NCBI36
NG_009087.1:g.18276_18278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.206_208del MANE Select	ENSP00000368752.4:p.His69_Gly70delinsArg
ENST00000424424.2:c.206_208del	ENSP00000411599.2:p.His69_Gly70delinsArg
ENST00000457586.2:c.206_208del	ENSP00000415284.2:p.His69_Gly70delinsArg
ENST00000379440.8:c.206_208del	ENSP00000368752.4:p.His69_Gly70delinsArg
ENST00000424424.1:c.206_208del	ENSP00000411599.1:p.His69_Gly70delinsArg
ENST00000430350.2:c.206_208del	ENSP00000399376.2:p.His69_Gly70delinsArg
ENST00000457586.1:c.206_208del	ENSP00000415284.1:p.His69_Gly70delinsArg
NM_000311.3:c.206_208del	NP_000302.1:p.His69_Gly70delinsArg
NM_001080121.1:c.206_208del	NP_001073590.1:p.His69_Gly70delinsArg
NM_001080122.1:c.206_208del	NP_001073591.1:p.His69_Gly70delinsArg
NM_001080123.1:c.206_208del	NP_001073592.1:p.His69_Gly70delinsArg
NM_001271561.1:c.117_119del	NP_001258490.1:p.Trp40del
NM_183079.2:c.206_208del	NP_898902.1:p.His69_Gly70delinsArg
NM_000311.4:c.206_208del	NP_000302.1:p.His69_Gly70delinsArg
NM_001080121.2:c.206_208del	NP_001073590.1:p.His69_Gly70delinsArg
NM_001080122.2:c.206_208del	NP_001073591.1:p.His69_Gly70delinsArg
NM_001080123.2:c.206_208del	NP_001073592.1:p.His69_Gly70delinsArg
NM_001271561.2:c.117_119del	NP_001258490.1:p.Trp40del
NM_183079.3:c.206_208del	NP_898902.1:p.His69_Gly70delinsArg
NM_000311.5:c.206_208del MANE Select	NP_000302.1:p.His69_Gly70delinsArg
NM_001080121.3:c.206_208del	NP_001073590.1:p.His69_Gly70delinsArg
NM_001080122.3:c.206_208del	NP_001073591.1:p.His69_Gly70delinsArg
NM_001080123.3:c.206_208del	NP_001073592.1:p.His69_Gly70delinsArg
NM_001271561.3:c.117_119del	NP_001258490.1:p.Trp40del
NM_183079.4:c.206_208del	NP_898902.1:p.His69_Gly70delinsArg