Canonical Allele Identifier: CA804698451
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1337590226
gnomAD v3: 5-140114022-TGTCTC-T
gnomAD v4: 5-140114022-TGTCTC-T
MyVariant Identifiers: chr5:g.139493608_139493612del (hg19) chr5:g.140114023_140114027del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114028_140114032del , CM000667.2:g.140114028_140114032del GRCh38
NC_000005.9:g.139493613_139493617del , CM000667.1:g.139493613_139493617del GRCh37
NC_000005.8:g.139473797_139473801del NCBI36
NG_041813.1:g.4906_4910del

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-13_-141-9del ENSP00000498560.1:n.-141-13_-141-9del
ENST00000651386.1:c.-141-13_-141-9del ENSP00000499133.1:n.-141-13_-141-9del
ENST00000502351.1:n.283-13_283-9del
ENST00000505703.1:n.325-13_325-9del
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