Canonical Allele Identifier: CA174991
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 156404
ClinVar RCV Id: RCV000144522 RCV000149570
dbSNP Id: rs587782992
MyVariant Identifiers: chr5:g.139494073_139494074del (hg19) chr5:g.140114488_140114489del (hg38)
PubMed: PMID:25439098
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114488_140114489del , CM000667.2:g.140114488_140114489del GRCh38
NC_000005.9:g.139494073_139494074del , CM000667.1:g.139494073_139494074del GRCh37
NC_000005.8:g.139474257_139474258del NCBI36
NG_041813.1:g.5366_5367del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.307_308del MANE Select ENSP00000332706.3:p.Ser103HisfsTer?
ENST00000505703.2:c.307_308del ENSP00000498560.1:p.Ser103HisfsTer?
ENST00000651386.1:c.307_308del ENSP00000499133.1:p.Ser103HisfsTer?
ENST00000331327.4:c.307_308del ENSP00000332706.3:p.Ser103HisfsTer?
NM_005859.4:c.307_308del NP_005850.1:p.Ser103HisfsTer?
NM_005859.5:c.307_308del MANE Select NP_005850.1:p.Ser103HisfsTer?
Search 100 bp 5'
Search 100 bp 3'