Canonical Allele Identifier: CA199218
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 189319
ClinVar RCV Id: RCV000169739 RCV000172939 RCV001266572 RCV003335173 RCV003937527
dbSNP Id: rs786204835
MyVariant Identifiers: chr5:g.139494463_139494465del (hg19) chr5:g.139494456_139494458del (hg19) chr5:g.140114878_140114880del (hg38)
PubMed: PMID:25342064 PMID:27148565 PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114878_140114880del , CM000667.2:g.140114878_140114880del GRCh38
NC_000005.9:g.139494463_139494465del , CM000667.1:g.139494463_139494465del GRCh37
NC_000005.8:g.139474647_139474649del NCBI36
NG_041813.1:g.5756_5758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.697_699del MANE Select ENSP00000332706.3:p.Phe233del
ENST00000651386.1:c.697_699del ENSP00000499133.1:p.Phe233del
ENST00000331327.4:c.697_699del ENSP00000332706.3:p.Phe233del
NM_005859.4:c.697_699del NP_005850.1:p.Phe233del
NM_005859.5:c.697_699del MANE Select NP_005850.1:p.Phe233del
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