Canonical Allele Identifier: CA2739289802
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 3024361
ClinVar RCV Id: RCV003883398
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114767_140114769del , CM000667.2:g.140114767_140114769del GRCh38
NC_000005.9:g.139494352_139494354del , CM000667.1:g.139494352_139494354del GRCh37
NC_000005.8:g.139474536_139474538del NCBI36
NG_041813.1:g.5645_5647del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.586_588del MANE Select ENSP00000332706.3:p.Ile196del
ENST00000651386.1:c.586_588del ENSP00000499133.1:p.Ile196del
ENST00000331327.4:c.586_588del ENSP00000332706.3:p.Ile196del
NM_005859.4:c.586_588del NP_005850.1:p.Ile196del
NM_005859.5:c.586_588del MANE Select NP_005850.1:p.Ile196del
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