Canonical Allele Identifier: CA2739275106
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 2861228
ClinVar RCV Id: RCV003747852
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140113537_140114444delinsGAGGTGGG , CM000667.2:g.140113537_140114444delinsGAGGTGGG GRCh38
NC_000005.9:g.139493122_139494029delinsGAGGTGGG , CM000667.1:g.139493122_139494029delinsGAGGTGGG GRCh37
NC_000005.8:g.139473306_139474213delinsGAGGTGGG NCBI36
NG_041813.1:g.4415_5322delinsGAGGTGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000505703.2:c.-141-504_263delinsGAGGTGGG
ENST00000651386.1:c.-141-504_263delinsGAGGTGGG
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