Canonical Allele Identifier: CA16618123
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 423410
ClinVar RCV Id: RCV000483427
dbSNP Id: rs1064796409

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114429del , CM000667.2:g.140114429del GRCh38
NC_000005.9:g.139494014del , CM000667.1:g.139494014del GRCh37
NC_000005.8:g.139474198del NCBI36
NG_041813.1:g.5307del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.248del MANE Select ENSP00000332706.3:p.Gly83AlafsTer4
ENST00000505703.2:c.248del ENSP00000498560.1:p.Gly83AlafsTer4
ENST00000651386.1:c.248del ENSP00000499133.1:p.Gly83AlafsTer4
ENST00000331327.4:c.248del ENSP00000332706.3:p.Gly83AlafsTer4
NM_005859.4:c.248del NP_005850.1:p.Gly83AlafsTer4
NM_005859.5:c.248del MANE Select NP_005850.1:p.Gly83AlafsTer4