Canonical Allele Identifier: CA960852237

Gene: PNP

Linked Data

• dbSNP Id: rs1882003775
• gnomAD v3: 14-20472346-TTC-T
• gnomAD v4: 14-20472346-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472348_20472349del , CM000676.2:g.20472348_20472349del	GRCh38
NC_000014.8:g.20940507_20940508del , CM000676.1:g.20940507_20940508del	GRCh37
NC_000014.7:g.20010347_20010348del	NCBI36
NG_009631.1:g.7966_7967del , LRG_91:g.7966_7967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.169_170del	ENSP00000452421.2:p.Leu57ValfsTer4
ENST00000556293.6:n.171_172del
ENST00000556754.2:n.1114_1115del
ENST00000557229.6:n.171_172del
ENST00000697613.1:c.52_53del	ENSP00000513359.1:p.Leu18ValfsTer4
ENST00000697614.1:c.-186_-185del	ENSP00000513360.1:n.-186_-185del
ENST00000697615.1:n.570_571del
ENST00000361505.10:c.52_53del MANE Select	ENSP00000354532.6:p.Leu18ValfsTer4
ENST00000361505.9:c.52_53del	ENSP00000354532.5:p.Leu18ValfsTer4
ENST00000553418.5:c.52_53del	ENSP00000450663.1:p.Leu18ValfsTer4
ENST00000553591.1:c.169_170del	ENSP00000452421.1:p.Leu57ValfsTer4
ENST00000554056.5:n.163_164del
ENST00000554065.1:c.-186_-185del	ENSP00000451108.1:n.-186_-185del
ENST00000556293.5:n.171_172del
ENST00000557229.5:n.171_172del
NM_000270.3:c.52_53del , LRG_91t1:c.52_53del	NP_000261.2:p.Leu18ValfsTer4
NM_000270.4:c.52_53del MANE Select	NP_000261.2:p.Leu18ValfsTer4