Canonical Allele Identifier: CA960852094

Gene: PNP

Linked Data

• dbSNP Id: rs1881996499
• gnomAD v3: 14-20471986-C-CT
• gnomAD v4: 14-20471986-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20471989dup , CM000676.2:g.20471989dup	GRCh38
NC_000014.8:g.20940148dup , CM000676.1:g.20940148dup	GRCh37
NC_000014.7:g.20009988dup	NCBI36
NG_009631.1:g.7607dup , LRG_91:g.7607dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.129-319dup	ENSP00000452421.2:n.129-319dup
ENST00000556293.6:n.131-319dup
ENST00000556754.2:n.755dup
ENST00000557229.6:n.131-319dup
ENST00000697613.1:c.12-319dup	ENSP00000513359.1:n.12-319dup
ENST00000697614.1:c.-226-319dup	ENSP00000513360.1:n.-226-319dup
ENST00000697615.1:n.211dup
ENST00000361505.10:c.12-319dup MANE Select	ENSP00000354532.6:n.12-319dup
ENST00000361505.9:c.12-319dup	ENSP00000354532.5:n.12-319dup
ENST00000553418.5:c.12-319dup	ENSP00000450663.1:n.12-319dup
ENST00000553591.1:c.129-319dup	ENSP00000452421.1:n.129-319dup
ENST00000554056.5:n.123-319dup
ENST00000554065.1:c.-226-319dup	ENSP00000451108.1:n.-226-319dup
ENST00000556293.5:n.131-319dup
ENST00000557229.5:n.131-319dup
NM_000270.3:c.12-319dup , LRG_91t1:c.12-319dup	NP_000261.2:n.12-319dup
NM_000270.4:c.12-319dup MANE Select	NP_000261.2:n.12-319dup