Canonical Allele Identifier: CA9752036

Gene: PRNP

Linked Data

• ClinVar Variation Id: 536237
• ClinVar RCV Id: RCV000990274 ; RCV001706695
• dbSNP Id: rs138688873
• ExAC: 20:4680094 CCATGGTGGTGGCTGGGGACAGCCT / C
• gnomAD v2: 20-4680094-CCATGGTGGTGGCTGGGGACAGCCT-C
• gnomAD v3: 20-4699448-CCATGGTGGTGGCTGGGGACAGCCT-C
• gnomAD v4: 20-4699448-CCATGGTGGTGGCTGGGGACAGCCT-C
• MyVariant Identifiers: chr20:g.4680112_4680135del (hg19) ; chr20:g.4680095_4680118del (hg19) ; chr20:g.4699466_4699489del (hg38) ; chr20:g.4699450_4699473del (hg38) ; chr20:g.4699449_4699472del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699466_4699489del , CM000682.2:g.4699466_4699489del	GRCh38
NC_000020.10:g.4680112_4680135del , CM000682.1:g.4680112_4680135del	GRCh37
NC_000020.9:g.4628112_4628135del	NCBI36
NG_009087.1:g.18316_18339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.246_269del MANE Select	ENSP00000368752.4:p.Gln83_Gly90del
ENST00000424424.2:c.246_269del	ENSP00000411599.2:p.Gln83_Gly90del
ENST00000457586.2:c.246_269del	ENSP00000415284.2:p.Gln83_Gly90del
ENST00000379440.8:c.246_269del	ENSP00000368752.4:p.Gln83_Gly90del
ENST00000424424.1:c.246_269del	ENSP00000411599.1:p.Gln83_Gly90del
ENST00000430350.2:c.246_269del	ENSP00000399376.2:p.Gln83_Gly90del
ENST00000457586.1:c.246_269del	ENSP00000415284.1:p.Gln83_Gly90del
NM_000311.3:c.246_269del	NP_000302.1:p.Gln83_Gly90del
NM_001080121.1:c.246_269del	NP_001073590.1:p.Gln83_Gly90del
NM_001080122.1:c.246_269del	NP_001073591.1:p.Gln83_Gly90del
NM_001080123.1:c.246_269del	NP_001073592.1:p.Gln83_Gly90del
NM_001271561.1:c.157_180del	NP_001258490.1:p.Thr53_Gly60del
NM_183079.2:c.246_269del	NP_898902.1:p.Gln83_Gly90del
NM_000311.4:c.246_269del	NP_000302.1:p.Gln83_Gly90del
NM_001080121.2:c.246_269del	NP_001073590.1:p.Gln83_Gly90del
NM_001080122.2:c.246_269del	NP_001073591.1:p.Gln83_Gly90del
NM_001080123.2:c.246_269del	NP_001073592.1:p.Gln83_Gly90del
NM_001271561.2:c.157_180del	NP_001258490.1:p.Thr53_Gly60del
NM_183079.3:c.246_269del	NP_898902.1:p.Gln83_Gly90del
NM_000311.5:c.246_269del MANE Select	NP_000302.1:p.Gln83_Gly90del
NM_001080121.3:c.246_269del	NP_001073590.1:p.Gln83_Gly90del
NM_001080122.3:c.246_269del	NP_001073591.1:p.Gln83_Gly90del
NM_001080123.3:c.246_269del	NP_001073592.1:p.Gln83_Gly90del
NM_001271561.3:c.157_180del	NP_001258490.1:p.Thr53_Gly60del
NM_183079.4:c.246_269del	NP_898902.1:p.Gln83_Gly90del