Canonical Allele Identifier: CA9752027

Gene: PRNP

Linked Data

• dbSNP Id: rs754362804
• ExAC: 20:4680070 T / TCATGGTGGTGGCTGGGGGCAGCCC
• gnomAD v2: 20-4680070-T-TCATGGTGGTGGCTGGGGGCAGCCC
• gnomAD v3: 20-4699424-T-TCATGGTGGTGGCTGGGGGCAGCCC
• gnomAD v4: 20-4699424-T-TCATGGTGGTGGCTGGGGGCAGCCC
• MyVariant Identifiers: chr20:g.4680094_4680095insCATGGTGGTGGCTGGGGGCAGCCC (hg19) ; chr20:g.4680070_4680071insCATGGTGGTGGCTGGGGGCAGCCC (hg19) ; chr20:g.4699448_4699449insCATGGTGGTGGCTGGGGGCAGCCC (hg38) ; chr20:g.4699424_4699425insCATGGTGGTGGCTGGGGGCAGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699442_4699465dup , CM000682.2:g.4699442_4699465dup	GRCh38
NC_000020.10:g.4680088_4680111dup , CM000682.1:g.4680088_4680111dup	GRCh37
NC_000020.9:g.4628088_4628111dup	NCBI36
NG_009087.1:g.18292_18315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.222_245dup MANE Select	ENSP00000368752.4:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
ENST00000424424.2:c.222_245dup	ENSP00000411599.2:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
ENST00000457586.2:c.222_245dup	ENSP00000415284.2:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
ENST00000379440.8:c.222_245dup	ENSP00000368752.4:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
ENST00000424424.1:c.222_245dup	ENSP00000411599.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
ENST00000430350.2:c.222_245dup	ENSP00000399376.2:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
ENST00000457586.1:c.222_245dup	ENSP00000415284.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_000311.3:c.222_245dup	NP_000302.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001080121.1:c.222_245dup	NP_001073590.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001080122.1:c.222_245dup	NP_001073591.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001080123.1:c.222_245dup	NP_001073592.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001271561.1:c.133_156dup	NP_001258490.1:p.Gly52_Thr53insAlaAlaProTrpTrpTrpLeuGly
NM_183079.2:c.222_245dup	NP_898902.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_000311.4:c.222_245dup	NP_000302.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001080121.2:c.222_245dup	NP_001073590.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001080122.2:c.222_245dup	NP_001073591.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001080123.2:c.222_245dup	NP_001073592.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001271561.2:c.133_156dup	NP_001258490.1:p.Gly52_Thr53insAlaAlaProTrpTrpTrpLeuGly
NM_183079.3:c.222_245dup	NP_898902.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_000311.5:c.222_245dup MANE Select	NP_000302.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001080121.3:c.222_245dup	NP_001073590.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001080122.3:c.222_245dup	NP_001073591.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001080123.3:c.222_245dup	NP_001073592.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly
NM_001271561.3:c.133_156dup	NP_001258490.1:p.Gly52_Thr53insAlaAlaProTrpTrpTrpLeuGly
NM_183079.4:c.222_245dup	NP_898902.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly