Canonical Allele Identifier: CA2675565139

Gene: PURA

Linked Data

• gnomAD v4: 5-140114074-TGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114083_140114160del , CM000667.2:g.140114083_140114160del	GRCh38
NC_000005.9:g.139493668_139493745del , CM000667.1:g.139493668_139493745del	GRCh37
NC_000005.8:g.139473852_139473929del	NCBI36
NG_041813.1:g.4961_5038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505703.2:c.-99_-22del	ENSP00000498560.1:n.-99_-22del
ENST00000651386.1:c.-99_-22del	ENSP00000499133.1:n.-99_-22del
ENST00000502351.1:n.325_402del
ENST00000505703.1:n.367_444del