Canonical Allele Identifier: CA16618125
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 419131
ClinVar RCV Id: RCV000486970
dbSNP Id: rs1064793665

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114448del , CM000667.2:g.140114448del GRCh38
NC_000005.9:g.139494033del , CM000667.1:g.139494033del GRCh37
NC_000005.8:g.139474217del NCBI36
NG_041813.1:g.5326del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.267del MANE Select ENSP00000332706.3:p.Glu90ArgfsTer?
ENST00000505703.2:c.267del ENSP00000498560.1:p.Glu90ArgfsTer?
ENST00000651386.1:c.267del ENSP00000499133.1:p.Glu90ArgfsTer?
ENST00000331327.4:c.267del ENSP00000332706.3:p.Glu90ArgfsTer?
NM_005859.4:c.267del NP_005850.1:p.Glu90ArgfsTer?
NM_005859.5:c.267del MANE Select NP_005850.1:p.Glu90ArgfsTer?