Canonical Allele Identifier: CA1139659098
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 976723
ClinVar RCV Id: RCV001254108
dbSNP Id: rs1763043820
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114479_140114496del , CM000667.2:g.140114479_140114496del GRCh38
NC_000005.9:g.139494064_139494081del , CM000667.1:g.139494064_139494081del GRCh37
NC_000005.8:g.139474248_139474265del NCBI36
NG_041813.1:g.5357_5374del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.298_315del MANE Select ENSP00000332706.3:p.Leu100_Ser105del
ENST00000505703.2:c.298_315del ENSP00000498560.1:p.Leu100_Ser105del
ENST00000651386.1:c.298_315del ENSP00000499133.1:p.Leu100_Ser105del
ENST00000331327.4:c.298_315del ENSP00000332706.3:p.Leu100_Ser105del
NM_005859.4:c.298_315del NP_005850.1:p.Leu100_Ser105del
NM_005859.5:c.298_315del MANE Select NP_005850.1:p.Leu100_Ser105del
Search 100 bp 5'
Search 100 bp 3'