Canonical Allele Identifier: CA2575472439

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472319_20472333del , CM000676.2:g.20472319_20472333del	GRCh38
NC_000014.8:g.20940478_20940492del , CM000676.1:g.20940478_20940492del	GRCh37
NC_000014.7:g.20010318_20010332del	NCBI36
NG_009631.1:g.7937_7951del , LRG_91:g.7937_7951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.140_154del	ENSP00000452421.2:p.Glu47_Thr52delinsAla
ENST00000556293.6:n.142_156del
ENST00000556754.2:n.1085_1099del
ENST00000557229.6:n.142_156del
ENST00000697613.1:c.23_37del	ENSP00000513359.1:p.Glu8_Thr13delinsAla
ENST00000697614.1:c.-215_-201del	ENSP00000513360.1:n.-215_-201del
ENST00000697615.1:n.541_555del
ENST00000361505.10:c.23_37del MANE Select	ENSP00000354532.6:p.Glu8_Thr13delinsAla
ENST00000361505.9:c.23_37del	ENSP00000354532.5:p.Glu8_Thr13delinsAla
ENST00000553418.5:c.23_37del	ENSP00000450663.1:p.Glu8_Thr13delinsAla
ENST00000553591.1:c.140_154del	ENSP00000452421.1:p.Glu47_Thr52delinsAla
ENST00000554056.5:n.134_148del
ENST00000554065.1:c.-215_-201del	ENSP00000451108.1:n.-215_-201del
ENST00000556293.5:n.142_156del
ENST00000557229.5:n.142_156del
NM_000270.3:c.23_37del , LRG_91t1:c.23_37del	NP_000261.2:p.Glu8_Thr13delinsAla
NM_000270.4:c.23_37del MANE Select	NP_000261.2:p.Glu8_Thr13delinsAla