Canonical Allele Identifier: CA2122043956
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472510_20472512delinsAGG , CM000676.2:g.20472510_20472512delinsAGG GRCh38
NC_000014.8:g.20940669_20940671delinsAGG , CM000676.1:g.20940669_20940671delinsAGG GRCh37
NC_000014.7:g.20010509_20010511delinsAGG NCBI36
NG_009631.1:g.8128_8130delinsAGG , LRG_91:g.8128_8130delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.298+33_298+35delinsAGG ENSP00000452421.2:n.298+33_298+35delinsAGG
ENST00000556293.6:n.333_335delinsAGG
ENST00000556754.2:n.1276_1278delinsAGG
ENST00000557229.6:n.300+33_300+35delinsAGG
ENST00000697613.1:c.181+33_181+35delinsAGG ENSP00000513359.1:n.181+33_181+35delinsAGG
ENST00000697614.1:c.-57+33_-57+35delinsAGG ENSP00000513360.1:n.-57+33_-57+35delinsAGG
ENST00000697615.1:n.699+33_699+35delinsAGG
ENST00000361505.10:c.181+33_181+35delinsAGG MANE Select ENSP00000354532.6:n.181+33_181+35delinsAGG
ENST00000361505.9:c.181+33_181+35delinsAGG ENSP00000354532.5:n.181+33_181+35delinsAGG
ENST00000553418.5:c.181+33_181+35delinsAGG ENSP00000450663.1:n.181+33_181+35delinsAGG
ENST00000553591.1:c.298+33_298+35delinsAGG ENSP00000452421.1:n.298+33_298+35delinsAGG
ENST00000554056.5:n.292+33_292+35delinsAGG
ENST00000554065.1:c.-57+33_-57+35delinsAGG ENSP00000451108.1:n.-57+33_-57+35delinsAGG
ENST00000556293.5:n.333_335delinsAGG
ENST00000557229.5:n.300+33_300+35delinsAGG
NM_000270.3:c.181+33_181+35delinsAGG , LRG_91t1:c.181+33_181+35delinsAGG NP_000261.2:n.181+33_181+35delinsAGG
NM_000270.4:c.181+33_181+35delinsAGG MANE Select NP_000261.2:n.181+33_181+35delinsAGG