Canonical Allele Identifier: CA612862420

Gene: PNP

Linked Data

• dbSNP Id: rs1360633322
• gnomAD v2: 14-20940623-T-TC
• gnomAD v4: 14-20472464-T-TC
• MyVariant Identifiers: chr14:g.20940623_20940624insC (hg19) ; chr14:g.20472464_20472465insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472468dup , CM000676.2:g.20472468dup	GRCh38
NC_000014.8:g.20940627dup , CM000676.1:g.20940627dup	GRCh37
NC_000014.7:g.20010467dup	NCBI36
NG_009631.1:g.8086dup , LRG_91:g.8086dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.289dup	ENSP00000452421.2:p.Arg97ProfsTer?
ENST00000556293.6:n.291dup
ENST00000556754.2:n.1234dup
ENST00000557229.6:n.291dup
ENST00000697613.1:c.172dup	ENSP00000513359.1:p.Arg58ProfsTer?
ENST00000697614.1:c.-66dup	ENSP00000513360.1:n.-66dup
ENST00000697615.1:n.690dup
ENST00000361505.10:c.172dup MANE Select	ENSP00000354532.6:p.Arg58ProfsTer?
ENST00000361505.9:c.172dup	ENSP00000354532.5:p.Arg58ProfsTer?
ENST00000553418.5:c.172dup	ENSP00000450663.1:p.Arg58ProfsTer?
ENST00000553591.1:c.289dup	ENSP00000452421.1:p.Arg97ProfsTer?
ENST00000554056.5:n.283dup
ENST00000554065.1:c.-66dup	ENSP00000451108.1:n.-66dup
ENST00000556293.5:n.291dup
ENST00000557229.5:n.291dup
NM_000270.3:c.172dup , LRG_91t1:c.172dup	NP_000261.2:p.Arg58ProfsTer?
NM_000270.4:c.172dup MANE Select	NP_000261.2:p.Arg58ProfsTer?