Canonical Allele Identifier: CA2580072972
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 2432894
ClinVar RCV Id: RCV003131278
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114838del , CM000667.2:g.140114838del GRCh38
NC_000005.9:g.139494423del , CM000667.1:g.139494423del GRCh37
NC_000005.8:g.139474607del NCBI36
NG_041813.1:g.5716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.657del MANE Select ENSP00000332706.3:p.Glu220ArgfsTer5
ENST00000651386.1:c.657del ENSP00000499133.1:p.Glu220ArgfsTer5
ENST00000331327.4:c.657del ENSP00000332706.3:p.Glu220ArgfsTer5
NM_005859.4:c.657del NP_005850.1:p.Glu220ArgfsTer5
NM_005859.5:c.657del MANE Select NP_005850.1:p.Glu220ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'