Canonical Allele Identifier: CA2499217693
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1068656
ClinVar RCV Id: RCV001380286
dbSNP Id: rs2126749301
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114828_140114841del , CM000667.2:g.140114828_140114841del GRCh38
NC_000005.9:g.139494413_139494426del , CM000667.1:g.139494413_139494426del GRCh37
NC_000005.8:g.139474597_139474610del NCBI36
NG_041813.1:g.5706_5719del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.647_660del MANE Select ENSP00000332706.3:p.Ala216GlyfsTer?
ENST00000651386.1:c.647_660del ENSP00000499133.1:p.Ala216GlyfsTer?
ENST00000331327.4:c.647_660del ENSP00000332706.3:p.Ala216GlyfsTer?
NM_005859.4:c.647_660del NP_005850.1:p.Ala216GlyfsTer?
NM_005859.5:c.647_660del MANE Select NP_005850.1:p.Ala216GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'