Canonical Allele Identifier: CA2675565219

Gene: PURA

Linked Data

• gnomAD v4: 5-140114106-AGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114114_140114170del , CM000667.2:g.140114114_140114170del	GRCh38
NC_000005.9:g.139493699_139493755del , CM000667.1:g.139493699_139493755del	GRCh37
NC_000005.8:g.139473883_139473939del	NCBI36
NG_041813.1:g.4992_5048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505703.2:c.-68_-12del	ENSP00000498560.1:n.-68_-12del
ENST00000651386.1:c.-68_-12del	ENSP00000499133.1:n.-68_-12del
ENST00000502351.1:n.356_412del
ENST00000505703.1:n.398_454del