Canonical Allele Identifier: CA2675565574
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114562-C-CCAGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114564_140114569dup , CM000667.2:g.140114564_140114569dup GRCh38
NC_000005.9:g.139494149_139494154dup , CM000667.1:g.139494149_139494154dup GRCh37
NC_000005.8:g.139474333_139474338dup NCBI36
NG_041813.1:g.5442_5447dup

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.383_388dup MANE Select ENSP00000332706.3:p.Pro129_Pro130insGlnPr...
ENST00000651386.1:c.383_388dup ENSP00000499133.1:p.Pro129_Pro130insGlnPr...
ENST00000331327.4:c.383_388dup ENSP00000332706.3:p.Pro129_Pro130insGlnPr...
NM_005859.4:c.383_388dup NP_005850.1:p.Pro129_Pro130insGlnPro
NM_005859.5:c.383_388dup MANE Select NP_005850.1:p.Pro129_Pro130insGlnPro
Search 100 bp 5'
Search 100 bp 3'