Canonical Allele Identifier: CA634331324

Gene: PRNP

Linked Data

• dbSNP Id: rs1568534451
• gnomAD v2: 20-4680112-A-ACAGCCTCATGGTGGTGGCTGGGGT
• gnomAD v4: 20-4699466-A-ACAGCCTCATGGTGGTGGCTGGGGT
• MyVariant Identifiers: chr20:g.4680112_4680113insCAGCCTCATGGTGGTGGCTGGGGT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699469_4699492dup , CM000682.2:g.4699469_4699492dup	GRCh38
NC_000020.10:g.4680115_4680138dup , CM000682.1:g.4680115_4680138dup	GRCh37
NC_000020.9:g.4628115_4628138dup	NCBI36
NG_009087.1:g.18319_18342dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.249_272dup MANE Select	ENSP00000368752.4:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
ENST00000424424.2:c.249_272dup	ENSP00000411599.2:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
ENST00000457586.2:c.249_272dup	ENSP00000415284.2:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
ENST00000379440.8:c.249_272dup	ENSP00000368752.4:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
ENST00000424424.1:c.249_272dup	ENSP00000411599.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
ENST00000430350.2:c.249_272dup	ENSP00000399376.2:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
ENST00000457586.1:c.249_272dup	ENSP00000415284.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_000311.3:c.249_272dup	NP_000302.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001080121.1:c.249_272dup	NP_001073590.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001080122.1:c.249_272dup	NP_001073591.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001080123.1:c.249_272dup	NP_001073592.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001271561.1:c.160_183dup	NP_001258490.1:p.Ser61_Arg62insAlaSerTrpTrpTrpLeuGlySer
NM_183079.2:c.249_272dup	NP_898902.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_000311.4:c.249_272dup	NP_000302.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001080121.2:c.249_272dup	NP_001073590.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001080122.2:c.249_272dup	NP_001073591.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001080123.2:c.249_272dup	NP_001073592.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001271561.2:c.160_183dup	NP_001258490.1:p.Ser61_Arg62insAlaSerTrpTrpTrpLeuGlySer
NM_183079.3:c.249_272dup	NP_898902.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_000311.5:c.249_272dup MANE Select	NP_000302.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001080121.3:c.249_272dup	NP_001073590.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001080122.3:c.249_272dup	NP_001073591.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001080123.3:c.249_272dup	NP_001073592.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln
NM_001271561.3:c.160_183dup	NP_001258490.1:p.Ser61_Arg62insAlaSerTrpTrpTrpLeuGlySer
NM_183079.4:c.249_272dup	NP_898902.1:p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln