Canonical Allele Identifier: CA128789405
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs868138895
MyVariant Identifiers: chr5:g.139494196_139494198del (hg19) chr5:g.140114612_140114614del (hg38) chr5:g.140114611_140114613del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114612_140114614del , CM000667.2:g.140114612_140114614del GRCh38
NC_000005.9:g.139494197_139494199del , CM000667.1:g.139494197_139494199del GRCh37
NC_000005.8:g.139474381_139474383del NCBI36
NG_041813.1:g.5490_5492del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.431_433del MANE Select ENSP00000332706.3:p.Lys144del
ENST00000651386.1:c.431_433del ENSP00000499133.1:p.Lys144del
ENST00000331327.4:c.431_433del ENSP00000332706.3:p.Lys144del
NM_005859.4:c.431_433del NP_005850.1:p.Lys144del
NM_005859.5:c.431_433del MANE Select NP_005850.1:p.Lys144del
Search 100 bp 5'
Search 100 bp 3'