Canonical Allele Identifier: CA2573335078
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 2500903
ClinVar RCV Id: RCV003226088
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114454_140114509del , CM000667.2:g.140114454_140114509del GRCh38
NC_000005.9:g.139494039_139494094del , CM000667.1:g.139494039_139494094del GRCh37
NC_000005.8:g.139474223_139474278del NCBI36
NG_041813.1:g.5332_5387del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.273_328del MANE Select ENSP00000332706.3:p.Gly92ProfsTer?
ENST00000651386.1:c.273_328del ENSP00000499133.1:p.Gly92ProfsTer?
ENST00000331327.4:c.273_328del ENSP00000332706.3:p.Gly92ProfsTer?
NM_005859.4:c.273_328del NP_005850.1:p.Gly92ProfsTer?
NM_005859.5:c.273_328del MANE Select NP_005850.1:p.Gly92ProfsTer?
Search 100 bp 5'
Search 100 bp 3'