Canonical Allele Identifier: CA2573139228
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1686116
ClinVar RCV Id: RCV002250283
dbSNP Id: rs2126749287
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114810del , CM000667.2:g.140114810del GRCh38
NC_000005.9:g.139494395del , CM000667.1:g.139494395del GRCh37
NC_000005.8:g.139474579del NCBI36
NG_041813.1:g.5688del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.629del MANE Select ENSP00000332706.3:p.Gly210GlufsTer15
ENST00000651386.1:c.629del ENSP00000499133.1:p.Gly210GlufsTer15
ENST00000331327.4:c.629del ENSP00000332706.3:p.Gly210GlufsTer15
NM_005859.4:c.629del NP_005850.1:p.Gly210GlufsTer15
NM_005859.5:c.629del MANE Select NP_005850.1:p.Gly210GlufsTer15
Search 100 bp 5'
Search 100 bp 3'