Canonical Allele Identifier: CA3437415
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs750397204
ExAC: 5:139493880 GGGCGGCGGCGGCAGTGGCGGCGGCGGC / G
gnomAD v2: 5-139493880-GGGCGGCGGCGGCAGTGGCGGCGGCGGC-G
gnomAD v4: 5-140114295-GGGCGGCGGCGGCAGTGGCGGCGGCGGC-G
MyVariant Identifiers: chr5:g.139493881_139493907del (hg19) chr5:g.140114296_140114322del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114301_140114327del , CM000667.2:g.140114301_140114327del GRCh38
NC_000005.9:g.139493886_139493912del , CM000667.1:g.139493886_139493912del GRCh37
NC_000005.8:g.139474070_139474096del NCBI36
NG_041813.1:g.5179_5205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.120_146del MANE Select ENSP00000332706.3:p.Gly41_Gly49del
ENST00000505703.2:c.120_146del ENSP00000498560.1:p.Gly41_Gly49del
ENST00000651386.1:c.120_146del ENSP00000499133.1:p.Gly41_Gly49del
ENST00000331327.4:c.120_146del ENSP00000332706.3:p.Gly41_Gly49del
NM_005859.4:c.120_146del NP_005850.1:p.Gly41_Gly49del
NM_005859.5:c.120_146del MANE Select NP_005850.1:p.Gly41_Gly49del
Search 100 bp 5'
Search 100 bp 3'