Canonical Allele Identifier: CA2347156491
Gene: PRNP HGNC NCBI

Linked Data

dbSNP Id: rs1765039074

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4699520_4699522del , CM000682.2:g.4699520_4699522del GRCh38
NC_000020.10:g.4680166_4680168del , CM000682.1:g.4680166_4680168del GRCh37
NC_000020.9:g.4628166_4628168del NCBI36
NG_009087.1:g.18370_18372del

Transcript Alleles

HGVS Amino-acid change
ENST00000379440.9:c.300_302del MANE Select ENSP00000368752.4:p.Asn100del
ENST00000424424.2:c.300_302del ENSP00000411599.2:p.Asn100del
ENST00000457586.2:c.300_302del ENSP00000415284.2:p.Asn100del
ENST00000379440.8:c.300_302del ENSP00000368752.4:p.Asn100del
ENST00000424424.1:c.300_302del ENSP00000411599.1:p.Asn100del
ENST00000430350.2:c.300_302del ENSP00000399376.2:p.Asn100del
ENST00000457586.1:c.300_302del ENSP00000415284.1:p.Asn100del
NM_000311.3:c.300_302del NP_000302.1:p.Asn100del
NM_001080121.1:c.300_302del NP_001073590.1:p.Asn100del
NM_001080122.1:c.300_302del NP_001073591.1:p.Asn100del
NM_001080123.1:c.300_302del NP_001073592.1:p.Asn100del
NM_001271561.1:c.211_213del NP_001258490.1:p.Gln71del
NM_183079.2:c.300_302del NP_898902.1:p.Asn100del
NM_000311.4:c.300_302del NP_000302.1:p.Asn100del
NM_001080121.2:c.300_302del NP_001073590.1:p.Asn100del
NM_001080122.2:c.300_302del NP_001073591.1:p.Asn100del
NM_001080123.2:c.300_302del NP_001073592.1:p.Asn100del
NM_001271561.2:c.211_213del NP_001258490.1:p.Gln71del
NM_183079.3:c.300_302del NP_898902.1:p.Asn100del
NM_000311.5:c.300_302del MANE Select NP_000302.1:p.Asn100del
NM_001080121.3:c.300_302del NP_001073590.1:p.Asn100del
NM_001080122.3:c.300_302del NP_001073591.1:p.Asn100del
NM_001080123.3:c.300_302del NP_001073592.1:p.Asn100del
NM_001271561.3:c.211_213del NP_001258490.1:p.Gln71del
NM_183079.4:c.300_302del NP_898902.1:p.Asn100del