Canonical Allele Identifier: CA2624009425

Gene: PNP

Linked Data

• gnomAD v4: 14-20472358-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472359del , CM000676.2:g.20472359del	GRCh38
NC_000014.8:g.20940518del , CM000676.1:g.20940518del	GRCh37
NC_000014.7:g.20010358del	NCBI36
NG_009631.1:g.7977del , LRG_91:g.7977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.180del	ENSP00000452421.2:p.Lys61SerfsTer8
ENST00000556293.6:n.182del
ENST00000556754.2:n.1125del
ENST00000557229.6:n.182del
ENST00000697613.1:c.63del	ENSP00000513359.1:p.Lys22SerfsTer8
ENST00000697614.1:c.-175del	ENSP00000513360.1:n.-175del
ENST00000697615.1:n.581del
ENST00000361505.10:c.63del MANE Select	ENSP00000354532.6:p.Lys22SerfsTer8
ENST00000361505.9:c.63del	ENSP00000354532.5:p.Lys22SerfsTer8
ENST00000553418.5:c.63del	ENSP00000450663.1:p.Lys22SerfsTer8
ENST00000553591.1:c.180del	ENSP00000452421.1:p.Lys61SerfsTer8
ENST00000554056.5:n.174del
ENST00000554065.1:c.-175del	ENSP00000451108.1:n.-175del
ENST00000556293.5:n.182del
ENST00000557229.5:n.182del
NM_000270.3:c.63del , LRG_91t1:c.63del	NP_000261.2:p.Lys22SerfsTer8
NM_000270.4:c.63del MANE Select	NP_000261.2:p.Lys22SerfsTer8