Canonical Allele Identifier: CA2580072960
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 2034267
ClinVar RCV Id: RCV002867758
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114384_140114392del , CM000667.2:g.140114384_140114392del GRCh38
NC_000005.9:g.139493969_139493977del , CM000667.1:g.139493969_139493977del GRCh37
NC_000005.8:g.139474153_139474161del NCBI36
NG_041813.1:g.5262_5270del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.203_211del MANE Select ENSP00000332706.3:p.Ile68_Asn70del
ENST00000505703.2:c.203_211del ENSP00000498560.1:p.Ile68_Asn70del
ENST00000651386.1:c.203_211del ENSP00000499133.1:p.Ile68_Asn70del
ENST00000331327.4:c.203_211del ENSP00000332706.3:p.Ile68_Asn70del
NM_005859.4:c.203_211del NP_005850.1:p.Ile68_Asn70del
NM_005859.5:c.203_211del MANE Select NP_005850.1:p.Ile68_Asn70del
Search 100 bp 5'
Search 100 bp 3'