Canonical Allele Identifier: CA634331356

Gene: PRNP

Linked Data

• ClinVar Variation Id: 858815
• ClinVar RCV Id: RCV001064781
• dbSNP Id: rs193922906
• gnomAD v2: 20-4680025-CGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT-C
• gnomAD v3: 20-4699379-CGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT-C
• gnomAD v4: 20-4699379-CGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT-C
• MyVariant Identifiers: chr20:g.4680026_4680073del (hg19) ; chr20:g.4699380_4699427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699400_4699447del , CM000682.2:g.4699400_4699447del	GRCh38
NC_000020.10:g.4680046_4680093del , CM000682.1:g.4680046_4680093del	GRCh37
NC_000020.9:g.4628046_4628093del	NCBI36
NG_009087.1:g.18250_18297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.180_227del MANE Select	ENSP00000368752.4:p.His61_Pro76del
ENST00000424424.2:c.180_227del	ENSP00000411599.2:p.His61_Pro76del
ENST00000457586.2:c.180_227del	ENSP00000415284.2:p.His61_Pro76del
ENST00000379440.8:c.180_227del	ENSP00000368752.4:p.His61_Pro76del
ENST00000424424.1:c.180_227del	ENSP00000411599.1:p.His61_Pro76del
ENST00000430350.2:c.180_227del	ENSP00000399376.2:p.His61_Pro76del
ENST00000457586.1:c.180_227del	ENSP00000415284.1:p.His61_Pro76del
NM_000311.3:c.180_227del	NP_000302.1:p.His61_Pro76del
NM_001080121.1:c.180_227del	NP_001073590.1:p.His61_Pro76del
NM_001080122.1:c.180_227del	NP_001073591.1:p.His61_Pro76del
NM_001080123.1:c.180_227del	NP_001073592.1:p.His61_Pro76del
NM_001271561.1:c.91_138del	NP_001258490.1:p.Ser31_Ala46del
NM_183079.2:c.180_227del	NP_898902.1:p.His61_Pro76del
NM_000311.4:c.180_227del	NP_000302.1:p.His61_Pro76del
NM_001080121.2:c.180_227del	NP_001073590.1:p.His61_Pro76del
NM_001080122.2:c.180_227del	NP_001073591.1:p.His61_Pro76del
NM_001080123.2:c.180_227del	NP_001073592.1:p.His61_Pro76del
NM_001271561.2:c.91_138del	NP_001258490.1:p.Ser31_Ala46del
NM_183079.3:c.180_227del	NP_898902.1:p.His61_Pro76del
NM_000311.5:c.180_227del MANE Select	NP_000302.1:p.His61_Pro76del
NM_001080121.3:c.180_227del	NP_001073590.1:p.His61_Pro76del
NM_001080122.3:c.180_227del	NP_001073591.1:p.His61_Pro76del
NM_001080123.3:c.180_227del	NP_001073592.1:p.His61_Pro76del
NM_001271561.3:c.91_138del	NP_001258490.1:p.Ser31_Ala46del
NM_183079.4:c.180_227del	NP_898902.1:p.His61_Pro76del