Canonical Allele Identifier: CA9752028

Gene: PRNP

Linked Data

• ClinVar Variation Id: 1496345
• ClinVar RCV Id: RCV002019177 ; RCV003388076
• dbSNP Id: rs754362804
• ExAC: 20:4680070 TCATGGTGGTGGCTGGGGGCAGCCC / T
• gnomAD v2: 20-4680070-TCATGGTGGTGGCTGGGGGCAGCCC-T
• gnomAD v3: 20-4699424-TCATGGTGGTGGCTGGGGGCAGCCC-T
• gnomAD v4: 20-4699424-TCATGGTGGTGGCTGGGGGCAGCCC-T
• MyVariant Identifiers: chr20:g.4680071_4680094del (hg19) ; chr20:g.4699425_4699448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699442_4699465del , CM000682.2:g.4699442_4699465del	GRCh38
NC_000020.10:g.4680088_4680111del , CM000682.1:g.4680088_4680111del	GRCh37
NC_000020.9:g.4628088_4628111del	NCBI36
NG_009087.1:g.18292_18315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.222_245del MANE Select	ENSP00000368752.4:p.Gln75_Gly82del
ENST00000424424.2:c.222_245del	ENSP00000411599.2:p.Gln75_Gly82del
ENST00000457586.2:c.222_245del	ENSP00000415284.2:p.Gln75_Gly82del
ENST00000379440.8:c.222_245del	ENSP00000368752.4:p.Gln75_Gly82del
ENST00000424424.1:c.222_245del	ENSP00000411599.1:p.Gln75_Gly82del
ENST00000430350.2:c.222_245del	ENSP00000399376.2:p.Gln75_Gly82del
ENST00000457586.1:c.222_245del	ENSP00000415284.1:p.Gln75_Gly82del
NM_000311.3:c.222_245del	NP_000302.1:p.Gln75_Gly82del
NM_001080121.1:c.222_245del	NP_001073590.1:p.Gln75_Gly82del
NM_001080122.1:c.222_245del	NP_001073591.1:p.Gln75_Gly82del
NM_001080123.1:c.222_245del	NP_001073592.1:p.Gln75_Gly82del
NM_001271561.1:c.133_156del	NP_001258490.1:p.Ala45_Gly52del
NM_183079.2:c.222_245del	NP_898902.1:p.Gln75_Gly82del
NM_000311.4:c.222_245del	NP_000302.1:p.Gln75_Gly82del
NM_001080121.2:c.222_245del	NP_001073590.1:p.Gln75_Gly82del
NM_001080122.2:c.222_245del	NP_001073591.1:p.Gln75_Gly82del
NM_001080123.2:c.222_245del	NP_001073592.1:p.Gln75_Gly82del
NM_001271561.2:c.133_156del	NP_001258490.1:p.Ala45_Gly52del
NM_183079.3:c.222_245del	NP_898902.1:p.Gln75_Gly82del
NM_000311.5:c.222_245del MANE Select	NP_000302.1:p.Gln75_Gly82del
NM_001080121.3:c.222_245del	NP_001073590.1:p.Gln75_Gly82del
NM_001080122.3:c.222_245del	NP_001073591.1:p.Gln75_Gly82del
NM_001080123.3:c.222_245del	NP_001073592.1:p.Gln75_Gly82del
NM_001271561.3:c.133_156del	NP_001258490.1:p.Ala45_Gly52del
NM_183079.4:c.222_245del	NP_898902.1:p.Gln75_Gly82del