Canonical Allele Identifier: CA2122043736

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20471992_20471998delinsCATAAGG , CM000676.2:g.20471992_20471998delinsCATAAGG	GRCh38
NC_000014.8:g.20940151_20940157delinsCATAAGG , CM000676.1:g.20940151_20940157delinsCATAAGG	GRCh37
NC_000014.7:g.20009991_20009997delinsCATAAGG	NCBI36
NG_009631.1:g.7610_7616delinsCATAAGG , LRG_91:g.7610_7616delinsCATAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.129-316_129-310delinsCATAAGG	ENSP00000452421.2:n.129-316_129-310delinsCATAAGG
ENST00000556293.6:n.131-316_131-310delinsCATAAGG
ENST00000556754.2:n.758_764delinsCATAAGG
ENST00000557229.6:n.131-316_131-310delinsCATAAGG
ENST00000697613.1:c.12-316_12-310delinsCATAAGG	ENSP00000513359.1:n.12-316_12-310delinsCATAAGG
ENST00000697614.1:c.-226-316_-226-310delinsCATAAGG	ENSP00000513360.1:n.-226-316_-226-310delinsCATAAGG
ENST00000697615.1:n.214_220delinsCATAAGG
ENST00000361505.10:c.12-316_12-310delinsCATAAGG MANE Select	ENSP00000354532.6:n.12-316_12-310delinsCATAAGG
ENST00000361505.9:c.12-316_12-310delinsCATAAGG	ENSP00000354532.5:n.12-316_12-310delinsCATAAGG
ENST00000553418.5:c.12-316_12-310delinsCATAAGG	ENSP00000450663.1:n.12-316_12-310delinsCATAAGG
ENST00000553591.1:c.129-316_129-310delinsCATAAGG	ENSP00000452421.1:n.129-316_129-310delinsCATAAGG
ENST00000554056.5:n.123-316_123-310delinsCATAAGG
ENST00000554065.1:c.-226-316_-226-310delinsCATAAGG	ENSP00000451108.1:n.-226-316_-226-310delinsCATAAGG
ENST00000556293.5:n.131-316_131-310delinsCATAAGG
ENST00000557229.5:n.131-316_131-310delinsCATAAGG
NM_000270.3:c.12-316_12-310delinsCATAAGG , LRG_91t1:c.12-316_12-310delinsCATAAGG	NP_000261.2:n.12-316_12-310delinsCATAAGG
NM_000270.4:c.12-316_12-310delinsCATAAGG MANE Select	NP_000261.2:n.12-316_12-310delinsCATAAGG