Canonical Allele Identifier: CA2675565142

Gene: PURA

Linked Data

• gnomAD v4: 5-140114074-TGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114083_140114157del , CM000667.2:g.140114083_140114157del	GRCh38
NC_000005.9:g.139493668_139493742del , CM000667.1:g.139493668_139493742del	GRCh37
NC_000005.8:g.139473852_139473926del	NCBI36
NG_041813.1:g.4961_5035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505703.2:c.-99_-25del	ENSP00000498560.1:n.-99_-25del
ENST00000651386.1:c.-99_-25del	ENSP00000499133.1:n.-99_-25del
ENST00000502351.1:n.325_399del
ENST00000505703.1:n.367_441del