Canonical Allele Identifier: CA2499222550

Gene: PNP

Linked Data

• ClinVar Variation Id: 1071551
• ClinVar RCV Id: RCV001384050
• dbSNP Id: rs2139335365

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472467_20472468delinsTT , CM000676.2:g.20472467_20472468delinsTT	GRCh38
NC_000014.8:g.20940626_20940627delinsTT , CM000676.1:g.20940626_20940627delinsTT	GRCh37
NC_000014.7:g.20010466_20010467delinsTT	NCBI36
NG_009631.1:g.8085_8086delinsTT , LRG_91:g.8085_8086delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.288_289delinsTT	ENSP00000452421.2:p.Pro97Ter
ENST00000556293.6:n.290_291delinsTT
ENST00000556754.2:n.1233_1234delinsTT
ENST00000557229.6:n.290_291delinsTT
ENST00000697613.1:c.171_172delinsTT	ENSP00000513359.1:p.Pro58Ter
ENST00000697614.1:c.-67_-66delinsTT	ENSP00000513360.1:n.-67_-66delinsTT
ENST00000697615.1:n.689_690delinsTT
ENST00000361505.10:c.171_172delinsTT MANE Select	ENSP00000354532.6:p.Pro58Ter
ENST00000361505.9:c.171_172delinsTT	ENSP00000354532.5:p.Pro58Ter
ENST00000553418.5:c.171_172delinsTT	ENSP00000450663.1:p.Pro58Ter
ENST00000553591.1:c.288_289delinsTT	ENSP00000452421.1:p.Pro97Ter
ENST00000554056.5:n.282_283delinsTT
ENST00000554065.1:c.-67_-66delinsTT	ENSP00000451108.1:n.-67_-66delinsTT
ENST00000556293.5:n.290_291delinsTT
ENST00000557229.5:n.290_291delinsTT
NM_000270.3:c.171_172delinsTT , LRG_91t1:c.171_172delinsTT	NP_000261.2:p.Pro58Ter
NM_000270.4:c.171_172delinsTT MANE Select	NP_000261.2:p.Pro58Ter