Canonical Allele Identifier: CA1586595747
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1012526
ClinVar RCV Id: RCV001310524
dbSNP Id: rs1763053819
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114897del , CM000667.2:g.140114897del GRCh38
NC_000005.9:g.139494482del , CM000667.1:g.139494482del GRCh37
NC_000005.8:g.139474666del NCBI36
NG_041813.1:g.5775del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.716del MANE Select ENSP00000332706.3:p.Lys239SerfsTer8
ENST00000651386.1:c.716del ENSP00000499133.1:p.Lys239SerfsTer8
ENST00000331327.4:c.716del ENSP00000332706.3:p.Lys239SerfsTer8
NM_005859.4:c.716del NP_005850.1:p.Lys239SerfsTer8
NM_005859.5:c.716del MANE Select NP_005850.1:p.Lys239SerfsTer8
Search 100 bp 5'
Search 100 bp 3'