Canonical Allele Identifier: CA891843401
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 569862
ClinVar RCV Id: RCV000690596
dbSNP Id: rs1561793344
MyVariant Identifiers: chr5:g.139494385_139494391del (hg19) chr5:g.140114800_140114806del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114800_140114806del , CM000667.2:g.140114800_140114806del GRCh38
NC_000005.9:g.139494385_139494391del , CM000667.1:g.139494385_139494391del GRCh37
NC_000005.8:g.139474569_139474575del NCBI36
NG_041813.1:g.5678_5684del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.619_625del MANE Select ENSP00000332706.3:p.Asp207ThrfsTer16
ENST00000651386.1:c.619_625del ENSP00000499133.1:p.Asp207ThrfsTer16
ENST00000331327.4:c.619_625del ENSP00000332706.3:p.Asp207ThrfsTer16
NM_005859.4:c.619_625del NP_005850.1:p.Asp207ThrfsTer16
NM_005859.5:c.619_625del MANE Select NP_005850.1:p.Asp207ThrfsTer16
Search 100 bp 5'
Search 100 bp 3'