Canonical Allele Identifier: CA2122044036

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472701_20472703delinsTAA , CM000676.2:g.20472701_20472703delinsTAA	GRCh38
NC_000014.8:g.20940860_20940862delinsTAA , CM000676.1:g.20940860_20940862delinsTAA	GRCh37
NC_000014.7:g.20010700_20010702delinsTAA	NCBI36
NG_009631.1:g.8319_8321delinsTAA , LRG_91:g.8319_8321delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.298+224_298+226delinsTAA	ENSP00000452421.2:n.298+224_298+226delinsTAA
ENST00000556293.6:n.524_526delinsTAA
ENST00000556754.2:n.1467_1469delinsTAA
ENST00000557229.6:n.300+224_300+226delinsTAA
ENST00000697613.1:c.181+224_181+226delinsTAA	ENSP00000513359.1:n.181+224_181+226delinsTAA
ENST00000697614.1:c.-57+224_-57+226delinsTAA	ENSP00000513360.1:n.-57+224_-57+226delinsTAA
ENST00000697615.1:n.699+224_699+226delinsTAA
ENST00000361505.10:c.181+224_181+226delinsTAA MANE Select	ENSP00000354532.6:n.181+224_181+226delinsTAA
ENST00000361505.9:c.181+224_181+226delinsTAA	ENSP00000354532.5:n.181+224_181+226delinsTAA
ENST00000553418.5:c.181+224_181+226delinsTAA	ENSP00000450663.1:n.181+224_181+226delinsTAA
ENST00000553591.1:c.298+224_298+226delinsTAA	ENSP00000452421.1:n.298+224_298+226delinsTAA
ENST00000554056.5:n.292+224_292+226delinsTAA
ENST00000554065.1:c.-57+224_-57+226delinsTAA	ENSP00000451108.1:n.-57+224_-57+226delinsTAA
ENST00000556293.5:n.524_526delinsTAA
ENST00000557229.5:n.300+224_300+226delinsTAA
NM_000270.3:c.181+224_181+226delinsTAA , LRG_91t1:c.181+224_181+226delinsTAA	NP_000261.2:n.181+224_181+226delinsTAA
NM_000270.4:c.181+224_181+226delinsTAA MANE Select	NP_000261.2:n.181+224_181+226delinsTAA