Canonical Allele Identifier: CA2624012171

Gene: PNP

Linked Data

• gnomAD v4: 14-20474997-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474998del , CM000676.2:g.20474998del	GRCh38
NC_000014.8:g.20943157del , CM000676.1:g.20943157del	GRCh37
NC_000014.7:g.20012997del	NCBI36
NG_009631.1:g.10616del , LRG_91:g.10616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.578+50del	ENSP00000452421.2:n.578+50del
ENST00000556293.6:n.2821del
ENST00000556754.2:n.3764del
ENST00000557229.6:n.827del
ENST00000697613.1:c.461+50del	ENSP00000513359.1:n.461+50del
ENST00000697614.1:c.224+50del	ENSP00000513360.1:n.224+50del
ENST00000697615.1:n.1226del
ENST00000361505.10:c.461+50del MANE Select	ENSP00000354532.6:n.461+50del
ENST00000361505.9:c.461+50del	ENSP00000354532.5:n.461+50del
ENST00000553591.1:c.578+50del	ENSP00000452421.1:n.578+50del
ENST00000554056.5:n.769+50del
ENST00000556754.1:n.1615del
ENST00000557229.5:n.827del
NM_000270.3:c.461+50del , LRG_91t1:c.461+50del	NP_000261.2:n.461+50del
NM_000270.4:c.461+50del MANE Select	NP_000261.2:n.461+50del