Canonical Allele Identifier: CA2122043884

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472345_20472346delinsCT , CM000676.2:g.20472345_20472346delinsCT	GRCh38
NC_000014.8:g.20940504_20940505delinsCT , CM000676.1:g.20940504_20940505delinsCT	GRCh37
NC_000014.7:g.20010344_20010345delinsCT	NCBI36
NG_009631.1:g.7963_7964delinsCT , LRG_91:g.7963_7964delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.166_167delinsCT	ENSP00000452421.2:p.Leu56=
ENST00000556293.6:n.168_169delinsCT
ENST00000556754.2:n.1111_1112delinsCT
ENST00000557229.6:n.168_169delinsCT
ENST00000697613.1:c.49_50delinsCT	ENSP00000513359.1:p.Leu17=
ENST00000697614.1:c.-189_-188delinsCT	ENSP00000513360.1:n.-189_-188delinsCT
ENST00000697615.1:n.567_568delinsCT
ENST00000361505.10:c.49_50delinsCT MANE Select	ENSP00000354532.6:p.Leu17=
ENST00000361505.9:c.49_50delinsCT	ENSP00000354532.5:p.Leu17=
ENST00000553418.5:c.49_50delinsCT	ENSP00000450663.1:p.Leu17=
ENST00000553591.1:c.166_167delinsCT	ENSP00000452421.1:p.Leu56=
ENST00000554056.5:n.160_161delinsCT
ENST00000554065.1:c.-189_-188delinsCT	ENSP00000451108.1:n.-189_-188delinsCT
ENST00000556293.5:n.168_169delinsCT
ENST00000557229.5:n.168_169delinsCT
NM_000270.3:c.49_50delinsCT , LRG_91t1:c.49_50delinsCT	NP_000261.2:p.Leu17=
NM_000270.4:c.49_50delinsCT MANE Select	NP_000261.2:p.Leu17=