Canonical Allele Identifier: CA960852306

Gene: PNP

Linked Data

• dbSNP Id: rs1882012091
• gnomAD v3: 14-20472599-AAG-A
• gnomAD v4: 14-20472599-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472604_20472605del , CM000676.2:g.20472604_20472605del	GRCh38
NC_000014.8:g.20940763_20940764del , CM000676.1:g.20940763_20940764del	GRCh37
NC_000014.7:g.20010603_20010604del	NCBI36
NG_009631.1:g.8222_8223del , LRG_91:g.8222_8223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.298+127_298+128del	ENSP00000452421.2:n.298+127_298+128del
ENST00000556293.6:n.427_428del
ENST00000556754.2:n.1370_1371del
ENST00000557229.6:n.300+127_300+128del
ENST00000697613.1:c.181+127_181+128del	ENSP00000513359.1:n.181+127_181+128del
ENST00000697614.1:c.-57+127_-57+128del	ENSP00000513360.1:n.-57+127_-57+128del
ENST00000697615.1:n.699+127_699+128del
ENST00000361505.10:c.181+127_181+128del MANE Select	ENSP00000354532.6:n.181+127_181+128del
ENST00000361505.9:c.181+127_181+128del	ENSP00000354532.5:n.181+127_181+128del
ENST00000553418.5:c.181+127_181+128del	ENSP00000450663.1:n.181+127_181+128del
ENST00000553591.1:c.298+127_298+128del	ENSP00000452421.1:n.298+127_298+128del
ENST00000554056.5:n.292+127_292+128del
ENST00000554065.1:c.-57+127_-57+128del	ENSP00000451108.1:n.-57+127_-57+128del
ENST00000556293.5:n.427_428del
ENST00000557229.5:n.300+127_300+128del
NM_000270.3:c.181+127_181+128del , LRG_91t1:c.181+127_181+128del	NP_000261.2:n.181+127_181+128del
NM_000270.4:c.181+127_181+128del MANE Select	NP_000261.2:n.181+127_181+128del