Canonical Allele Identifier: CA2800792084
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472358del , CM000676.2:g.20472358del GRCh38
NC_000014.8:g.20940517del , CM000676.1:g.20940517del GRCh37
NC_000014.7:g.20010357del NCBI36
NG_009631.1:g.7976del , LRG_91:g.7976del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.179del ENSP00000452421.2:p.Thr60IlefsTer9
ENST00000556293.6:n.181del
ENST00000556754.2:n.1124del
ENST00000557229.6:n.181del
ENST00000697613.1:c.62del ENSP00000513359.1:p.Thr21IlefsTer9
ENST00000697614.1:c.-176del ENSP00000513360.1:n.-176del
ENST00000697615.1:n.580del
ENST00000361505.10:c.62del MANE Select ENSP00000354532.6:p.Thr21IlefsTer9
ENST00000361505.9:c.62del ENSP00000354532.5:p.Thr21IlefsTer9
ENST00000553418.5:c.62del ENSP00000450663.1:p.Thr21IlefsTer9
ENST00000553591.1:c.179del ENSP00000452421.1:p.Thr60IlefsTer9
ENST00000554056.5:n.173del
ENST00000554065.1:c.-176del ENSP00000451108.1:n.-176del
ENST00000556293.5:n.181del
ENST00000557229.5:n.181del
NM_000270.3:c.62del , LRG_91t1:c.62del NP_000261.2:p.Thr21IlefsTer9
NM_000270.4:c.62del MANE Select NP_000261.2:p.Thr21IlefsTer9