Canonical Allele Identifier: CA2122043886

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472346_20472348delinsTTC , CM000676.2:g.20472346_20472348delinsTTC	GRCh38
NC_000014.8:g.20940505_20940507delinsTTC , CM000676.1:g.20940505_20940507delinsTTC	GRCh37
NC_000014.7:g.20010345_20010347delinsTTC	NCBI36
NG_009631.1:g.7964_7966delinsTTC , LRG_91:g.7964_7966delinsTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.167_169delinsTTC	ENSP00000452421.2:p.Leu56=
ENST00000556293.6:n.169_171delinsTTC
ENST00000556754.2:n.1112_1114delinsTTC
ENST00000557229.6:n.169_171delinsTTC
ENST00000697613.1:c.50_52delinsTTC	ENSP00000513359.1:p.Leu17=
ENST00000697614.1:c.-188_-186delinsTTC	ENSP00000513360.1:n.-188_-186delinsTTC
ENST00000697615.1:n.568_570delinsTTC
ENST00000361505.10:c.50_52delinsTTC MANE Select	ENSP00000354532.6:p.Leu17=
ENST00000361505.9:c.50_52delinsTTC	ENSP00000354532.5:p.Leu17=
ENST00000553418.5:c.50_52delinsTTC	ENSP00000450663.1:p.Leu17=
ENST00000553591.1:c.167_169delinsTTC	ENSP00000452421.1:p.Leu56=
ENST00000554056.5:n.161_163delinsTTC
ENST00000554065.1:c.-188_-186delinsTTC	ENSP00000451108.1:n.-188_-186delinsTTC
ENST00000556293.5:n.169_171delinsTTC
ENST00000557229.5:n.169_171delinsTTC
NM_000270.3:c.50_52delinsTTC , LRG_91t1:c.50_52delinsTTC	NP_000261.2:p.Leu17=
NM_000270.4:c.50_52delinsTTC MANE Select	NP_000261.2:p.Leu17=