Canonical Allele Identifier: CA9752037

Gene: PRNP

Linked Data

• dbSNP Id: rs138688873
• ExAC: 20:4680094 C / CCATGGTGGTGGCTGGGGACAGCCT
• gnomAD v2: 20-4680094-C-CCATGGTGGTGGCTGGGGACAGCCT
• gnomAD v3: 20-4699448-C-CCATGGTGGTGGCTGGGGACAGCCT
• gnomAD v4: 20-4699448-C-CCATGGTGGTGGCTGGGGACAGCCT
• MyVariant Identifiers: chr20:g.4680118_4680119insCATGGTGGTGGCTGGGGACAGCCT (hg19) ; chr20:g.4680094_4680095insCATGGTGGTGGCTGGGGACAGCCT (hg19) ; chr20:g.4699448_4699449insCATGGTGGTGGCTGGGGACAGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699466_4699489dup , CM000682.2:g.4699466_4699489dup	GRCh38
NC_000020.10:g.4680112_4680135dup , CM000682.1:g.4680112_4680135dup	GRCh37
NC_000020.9:g.4628112_4628135dup	NCBI36
NG_009087.1:g.18316_18339dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.246_269dup MANE Select	ENSP00000368752.4:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
ENST00000424424.2:c.246_269dup	ENSP00000411599.2:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
ENST00000457586.2:c.246_269dup	ENSP00000415284.2:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
ENST00000379440.8:c.246_269dup	ENSP00000368752.4:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
ENST00000424424.1:c.246_269dup	ENSP00000411599.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
ENST00000430350.2:c.246_269dup	ENSP00000399376.2:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
ENST00000457586.1:c.246_269dup	ENSP00000415284.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_000311.3:c.246_269dup	NP_000302.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001080121.1:c.246_269dup	NP_001073590.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001080122.1:c.246_269dup	NP_001073591.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001080123.1:c.246_269dup	NP_001073592.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001271561.1:c.157_180dup	NP_001258490.1:p.Gly60_Ser61insThrAlaSerTrpTrpTrpLeuGly
NM_183079.2:c.246_269dup	NP_898902.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_000311.4:c.246_269dup	NP_000302.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001080121.2:c.246_269dup	NP_001073590.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001080122.2:c.246_269dup	NP_001073591.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001080123.2:c.246_269dup	NP_001073592.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001271561.2:c.157_180dup	NP_001258490.1:p.Gly60_Ser61insThrAlaSerTrpTrpTrpLeuGly
NM_183079.3:c.246_269dup	NP_898902.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_000311.5:c.246_269dup MANE Select	NP_000302.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001080121.3:c.246_269dup	NP_001073590.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001080122.3:c.246_269dup	NP_001073591.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001080123.3:c.246_269dup	NP_001073592.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly
NM_001271561.3:c.157_180dup	NP_001258490.1:p.Gly60_Ser61insThrAlaSerTrpTrpTrpLeuGly
NM_183079.4:c.246_269dup	NP_898902.1:p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly