Canonical Allele Identifier: CA249902
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 156412
ClinVar RCV Id: RCV000144530
dbSNP Id: rs587783000
MyVariant Identifiers: chr5:g.139494029_139494031del (hg19) chr5:g.140114444_140114446del (hg38)
PubMed: PMID:25439098
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114444_140114446del , CM000667.2:g.140114444_140114446del GRCh38
NC_000005.9:g.139494029_139494031del , CM000667.1:g.139494029_139494031del GRCh37
NC_000005.8:g.139474213_139474215del NCBI36
NG_041813.1:g.5322_5324del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.263_265del MANE Select ENSP00000332706.3:p.Ile88_Ala89delinsThr
ENST00000505703.2:c.263_265del ENSP00000498560.1:p.Ile88_Ala89delinsThr
ENST00000651386.1:c.263_265del ENSP00000499133.1:p.Ile88_Ala89delinsThr
ENST00000331327.4:c.263_265del ENSP00000332706.3:p.Ile88_Ala89delinsThr
NM_005859.4:c.263_265del NP_005850.1:p.Ile88_Ala89delinsThr
NM_005859.5:c.263_265del MANE Select NP_005850.1:p.Ile88_Ala89delinsThr
Search 100 bp 5'
Search 100 bp 3'