Canonical Allele Identifier: CA2122043953
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472506_20472508delinsACT , CM000676.2:g.20472506_20472508delinsACT GRCh38
NC_000014.8:g.20940665_20940667delinsACT , CM000676.1:g.20940665_20940667delinsACT GRCh37
NC_000014.7:g.20010505_20010507delinsACT NCBI36
NG_009631.1:g.8124_8126delinsACT , LRG_91:g.8124_8126delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.298+29_298+31delinsACT ENSP00000452421.2:n.298+29_298+31delinsACT
ENST00000556293.6:n.329_331delinsACT
ENST00000556754.2:n.1272_1274delinsACT
ENST00000557229.6:n.300+29_300+31delinsACT
ENST00000697613.1:c.181+29_181+31delinsACT ENSP00000513359.1:n.181+29_181+31delinsACT
ENST00000697614.1:c.-57+29_-57+31delinsACT ENSP00000513360.1:n.-57+29_-57+31delinsACT
ENST00000697615.1:n.699+29_699+31delinsACT
ENST00000361505.10:c.181+29_181+31delinsACT MANE Select ENSP00000354532.6:n.181+29_181+31delinsACT
ENST00000361505.9:c.181+29_181+31delinsACT ENSP00000354532.5:n.181+29_181+31delinsACT
ENST00000553418.5:c.181+29_181+31delinsACT ENSP00000450663.1:n.181+29_181+31delinsACT
ENST00000553591.1:c.298+29_298+31delinsACT ENSP00000452421.1:n.298+29_298+31delinsACT
ENST00000554056.5:n.292+29_292+31delinsACT
ENST00000554065.1:c.-57+29_-57+31delinsACT ENSP00000451108.1:n.-57+29_-57+31delinsACT
ENST00000556293.5:n.329_331delinsACT
ENST00000557229.5:n.300+29_300+31delinsACT
NM_000270.3:c.181+29_181+31delinsACT , LRG_91t1:c.181+29_181+31delinsACT NP_000261.2:n.181+29_181+31delinsACT
NM_000270.4:c.181+29_181+31delinsACT MANE Select NP_000261.2:n.181+29_181+31delinsACT