Canonical Allele Identifier: CA2575472478

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474999_20475000del , CM000676.2:g.20474999_20475000del	GRCh38
NC_000014.8:g.20943158_20943159del , CM000676.1:g.20943158_20943159del	GRCh37
NC_000014.7:g.20012998_20012999del	NCBI36
NG_009631.1:g.10617_10618del , LRG_91:g.10617_10618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.578+51_578+52del	ENSP00000452421.2:n.578+51_578+52del
ENST00000556293.6:n.2822_2823del
ENST00000556754.2:n.3765_3766del
ENST00000557229.6:n.828_829del
ENST00000697613.1:c.461+51_461+52del	ENSP00000513359.1:n.461+51_461+52del
ENST00000697614.1:c.224+51_224+52del	ENSP00000513360.1:n.224+51_224+52del
ENST00000697615.1:n.1227_1228del
ENST00000361505.10:c.461+51_461+52del MANE Select	ENSP00000354532.6:n.461+51_461+52del
ENST00000361505.9:c.461+51_461+52del	ENSP00000354532.5:n.461+51_461+52del
ENST00000553591.1:c.578+51_578+52del	ENSP00000452421.1:n.578+51_578+52del
ENST00000554056.5:n.769+51_769+52del
ENST00000556754.1:n.1616_1617del
ENST00000557229.5:n.828_829del
NM_000270.3:c.461+51_461+52del , LRG_91t1:c.461+51_461+52del	NP_000261.2:n.461+51_461+52del
NM_000270.4:c.461+51_461+52del MANE Select	NP_000261.2:n.461+51_461+52del