Canonical Allele Identifier: CA2651785449

Gene: PRNP

Linked Data

• gnomAD v4: 20-4699418-G-GCAGCCTCATGGTGGTGGCTGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699441_4699442insACAGCCTCATGGTGGTGGCTGGGG , CM000682.2:g.4699441_4699442insACAGCCTCATGGTGGTGGCTGGGG	GRCh38
NC_000020.10:g.4680087_4680088insACAGCCTCATGGTGGTGGCTGGGG , CM000682.1:g.4680087_4680088insACAGCCTCATGGTGGTGGCTGGGG	GRCh37
NC_000020.9:g.4628087_4628088insACAGCCTCATGGTGGTGGCTGGGG	NCBI36
NG_009087.1:g.18291_18292insACAGCCTCATGGTGGTGGCTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.221_222insACAGCCTCATGGTGGTGGCTGGGG MANE Select	ENSP00000368752.4:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
ENST00000424424.2:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	ENSP00000411599.2:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
ENST00000457586.2:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	ENSP00000415284.2:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
ENST00000379440.8:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	ENSP00000368752.4:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
ENST00000424424.1:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	ENSP00000411599.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
ENST00000430350.2:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	ENSP00000399376.2:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
ENST00000457586.1:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	ENSP00000415284.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_000311.3:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_000302.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001080121.1:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_001073590.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001080122.1:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_001073591.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001080123.1:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_001073592.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001271561.1:c.132_133insACAGCCTCATGGTGGTGGCTGGGG	NP_001258490.1:p.Gly44_Ala45insThrAlaSerTrpTrpTrpLeuGly
NM_183079.2:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_898902.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_000311.4:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_000302.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001080121.2:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_001073590.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001080122.2:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_001073591.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001080123.2:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_001073592.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001271561.2:c.132_133insACAGCCTCATGGTGGTGGCTGGGG	NP_001258490.1:p.Gly44_Ala45insThrAlaSerTrpTrpTrpLeuGly
NM_183079.3:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_898902.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_000311.5:c.221_222insACAGCCTCATGGTGGTGGCTGGGG MANE Select	NP_000302.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001080121.3:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_001073590.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001080122.3:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_001073591.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001080123.3:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_001073592.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly
NM_001271561.3:c.132_133insACAGCCTCATGGTGGTGGCTGGGG	NP_001258490.1:p.Gly44_Ala45insThrAlaSerTrpTrpTrpLeuGly
NM_183079.4:c.221_222insACAGCCTCATGGTGGTGGCTGGGG	NP_898902.1:p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly