Canonical Allele Identifier: CA1014957580

Gene: PRNP

Linked Data

• gnomAD v3: 20-4699400-T-TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC
• gnomAD v4: 20-4699400-T-TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699418_4699465dup , CM000682.2:g.4699418_4699465dup	GRCh38
NC_000020.10:g.4680064_4680111dup , CM000682.1:g.4680064_4680111dup	GRCh37
NC_000020.9:g.4628064_4628111dup	NCBI36
NG_009087.1:g.18268_18315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.198_245dup MANE Select	ENSP00000368752.4:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGln...
ENST00000424424.2:c.198_245dup	ENSP00000411599.2:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGln...
ENST00000457586.2:c.198_245dup	ENSP00000415284.2:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGln...
ENST00000379440.8:c.198_245dup	ENSP00000368752.4:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGln...
ENST00000424424.1:c.198_245dup	ENSP00000411599.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGln...
ENST00000430350.2:c.198_245dup	ENSP00000399376.2:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGln...
ENST00000457586.1:c.198_245dup	ENSP00000415284.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGln...
NM_000311.3:c.198_245dup	NP_000302.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnProHis...
NM_001080121.1:c.198_245dup	NP_001073590.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnPro...
NM_001080122.1:c.198_245dup	NP_001073591.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnPro...
NM_001080123.1:c.198_245dup	NP_001073592.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnPro...
NM_001271561.1:c.109_156dup	NP_001258490.1:p.Gly52_Thr53insAlaAlaSerTrpTrpTrpLeuGlyAlaAla...
NM_183079.2:c.198_245dup	NP_898902.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnProHis...
NM_000311.4:c.198_245dup	NP_000302.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnProHis...
NM_001080121.2:c.198_245dup	NP_001073590.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnPro...
NM_001080122.2:c.198_245dup	NP_001073591.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnPro...
NM_001080123.2:c.198_245dup	NP_001073592.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnPro...
NM_001271561.2:c.109_156dup	NP_001258490.1:p.Gly52_Thr53insAlaAlaSerTrpTrpTrpLeuGlyAlaAla...
NM_183079.3:c.198_245dup	NP_898902.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnProHis...
NM_000311.5:c.198_245dup MANE Select	NP_000302.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnProHis...
NM_001080121.3:c.198_245dup	NP_001073590.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnPro...
NM_001080122.3:c.198_245dup	NP_001073591.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnPro...
NM_001080123.3:c.198_245dup	NP_001073592.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnPro...
NM_001271561.3:c.109_156dup	NP_001258490.1:p.Gly52_Thr53insAlaAlaSerTrpTrpTrpLeuGlyAlaAla...
NM_183079.4:c.198_245dup	NP_898902.1:p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnProHis...