Canonical Allele Identifier: CA645586711
Gene: PNP HGNC NCBI

Linked Data

COSMIC: COSM68996

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472386_20472387del , CM000676.2:g.20472386_20472387del GRCh38
NC_000014.8:g.20940545_20940546del , CM000676.1:g.20940545_20940546del GRCh37
NC_000014.7:g.20010385_20010386del NCBI36
NG_009631.1:g.8004_8005del , LRG_91:g.8004_8005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.207_208del ENSP00000452421.2:p.Ile69MetfsTer10
ENST00000556293.6:n.209_210del
ENST00000556754.2:n.1152_1153del
ENST00000557229.6:n.209_210del
ENST00000697613.1:c.90_91del ENSP00000513359.1:p.Ile30MetfsTer10
ENST00000697614.1:c.-148_-147del ENSP00000513360.1:n.-148_-147del
ENST00000697615.1:n.608_609del
ENST00000361505.10:c.90_91del MANE Select ENSP00000354532.6:p.Ile30MetfsTer10
ENST00000361505.9:c.90_91del ENSP00000354532.5:p.Ile30MetfsTer10
ENST00000553418.5:c.90_91del ENSP00000450663.1:p.Ile30MetfsTer10
ENST00000553591.1:c.207_208del ENSP00000452421.1:p.Ile69MetfsTer10
ENST00000554056.5:n.201_202del
ENST00000554065.1:c.-148_-147del ENSP00000451108.1:n.-148_-147del
ENST00000556293.5:n.209_210del
ENST00000557229.5:n.209_210del
NM_000270.3:c.90_91del , LRG_91t1:c.90_91del NP_000261.2:p.Ile30MetfsTer10
NM_000270.4:c.90_91del MANE Select NP_000261.2:p.Ile30MetfsTer10