Canonical Allele Identifier: CA1586592572
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1763032216
gnomAD v4: 5-140114114-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114116del , CM000667.2:g.140114116del GRCh38
NC_000005.9:g.139493701del , CM000667.1:g.139493701del GRCh37
NC_000005.8:g.139473885del NCBI36
NG_041813.1:g.4994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.-66del MANE Select ENSP00000332706.3:n.-66del
ENST00000505703.2:c.-66del ENSP00000498560.1:n.-66del
ENST00000651386.1:c.-66del ENSP00000499133.1:n.-66del
ENST00000502351.1:n.358del
ENST00000505703.1:n.400del
NM_005859.5:c.-66del MANE Select NP_005850.1:n.-66del
Search 100 bp 5'
Search 100 bp 3'