Canonical Allele Identifier: CA16618128
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 421890
ClinVar RCV Id: RCV000484488
dbSNP Id: rs1064795428

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114797_140114799del , CM000667.2:g.140114797_140114799del GRCh38
NC_000005.9:g.139494382_139494384del , CM000667.1:g.139494382_139494384del GRCh37
NC_000005.8:g.139474566_139474568del NCBI36
NG_041813.1:g.5675_5677del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.616_618del MANE Select ENSP00000332706.3:p.Ile206del
ENST00000651386.1:c.616_618del ENSP00000499133.1:p.Ile206del
ENST00000331327.4:c.616_618del ENSP00000332706.3:p.Ile206del
NM_005859.4:c.616_618del NP_005850.1:p.Ile206del
NM_005859.5:c.616_618del MANE Select NP_005850.1:p.Ile206del