Canonical Allele Identifier: CA1586592380
Gene: PURA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114013_140114022delinsGGTCTCGTCT , CM000667.2:g.140114013_140114022delinsGGTCTCGTCT GRCh38
NC_000005.9:g.139493598_139493607delinsGGTCTCGTCT , CM000667.1:g.139493598_139493607delinsGGTCTCGTCT GRCh37
NC_000005.8:g.139473782_139473791delinsGGTCTCGTCT NCBI36
NG_041813.1:g.4891_4900delinsGGTCTCGTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-28_-141-19delinsGGTCTCGTCT ENSP00000498560.1:n.-141-28_-141-19delinsGGTCTCGTCT
ENST00000651386.1:c.-141-28_-141-19delinsGGTCTCGTCT ENSP00000499133.1:n.-141-28_-141-19delinsGGTCTCGTCT
ENST00000502351.1:n.283-28_283-19delinsGGTCTCGTCT
ENST00000505703.1:n.325-28_325-19delinsGGTCTCGTCT