Canonical Allele Identifier: CA2499217692
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1299583
ClinVar RCV Id: RCV001730056 RCV002343805 RCV002471138
dbSNP Id: rs2126749210
gnomAD v4: 5-140114707-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114712del , CM000667.2:g.140114712del GRCh38
NC_000005.9:g.139494297del , CM000667.1:g.139494297del GRCh37
NC_000005.8:g.139474481del NCBI36
NG_041813.1:g.5590del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.531del MANE Select ENSP00000332706.3:p.Pro178LeufsTer?
ENST00000651386.1:c.531del ENSP00000499133.1:p.Pro178LeufsTer?
ENST00000331327.4:c.531del ENSP00000332706.3:p.Pro178LeufsTer?
NM_005859.4:c.531del NP_005850.1:p.Pro178LeufsTer?
NM_005859.5:c.531del MANE Select NP_005850.1:p.Pro178LeufsTer?
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