Canonical Allele Identifier: CA2800792078
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472131_20472132del , CM000676.2:g.20472131_20472132del GRCh38
NC_000014.8:g.20940290_20940291del , CM000676.1:g.20940290_20940291del GRCh37
NC_000014.7:g.20010130_20010131del NCBI36
NG_009631.1:g.7749_7750del , LRG_91:g.7749_7750del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.129-177_129-176del ENSP00000452421.2:n.129-177_129-176del
ENST00000556293.6:n.131-177_131-176del
ENST00000556754.2:n.897_898del
ENST00000557229.6:n.131-177_131-176del
ENST00000697613.1:c.12-177_12-176del ENSP00000513359.1:n.12-177_12-176del
ENST00000697614.1:c.-226-177_-226-176del ENSP00000513360.1:n.-226-177_-226-176del
ENST00000697615.1:n.353_354del
ENST00000361505.10:c.12-177_12-176del MANE Select ENSP00000354532.6:n.12-177_12-176del
ENST00000361505.9:c.12-177_12-176del ENSP00000354532.5:n.12-177_12-176del
ENST00000553418.5:c.12-177_12-176del ENSP00000450663.1:n.12-177_12-176del
ENST00000553591.1:c.129-177_129-176del ENSP00000452421.1:n.129-177_129-176del
ENST00000554056.5:n.123-177_123-176del
ENST00000554065.1:c.-226-177_-226-176del ENSP00000451108.1:n.-226-177_-226-176del
ENST00000556293.5:n.131-177_131-176del
ENST00000557229.5:n.131-177_131-176del
NM_000270.3:c.12-177_12-176del , LRG_91t1:c.12-177_12-176del NP_000261.2:n.12-177_12-176del
NM_000270.4:c.12-177_12-176del MANE Select NP_000261.2:n.12-177_12-176del