Canonical Allele Identifier: CA2122043889

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472355_20472362delinsACACTAAG , CM000676.2:g.20472355_20472362delinsACACTAAG	GRCh38
NC_000014.8:g.20940514_20940521delinsACACTAAG , CM000676.1:g.20940514_20940521delinsACACTAAG	GRCh37
NC_000014.7:g.20010354_20010361delinsACACTAAG	NCBI36
NG_009631.1:g.7973_7980delinsACACTAAG , LRG_91:g.7973_7980delinsACACTAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.176_183delinsACACTAAG	ENSP00000452421.2:p.His59=
ENST00000556293.6:n.178_185delinsACACTAAG
ENST00000556754.2:n.1121_1128delinsACACTAAG
ENST00000557229.6:n.178_185delinsACACTAAG
ENST00000697613.1:c.59_66delinsACACTAAG	ENSP00000513359.1:p.His20=
ENST00000697614.1:c.-179_-172delinsACACTAAG	ENSP00000513360.1:n.-179_-172delinsACACTA...
ENST00000697615.1:n.577_584delinsACACTAAG
ENST00000361505.10:c.59_66delinsACACTAAG MANE Select	ENSP00000354532.6:p.His20=
ENST00000361505.9:c.59_66delinsACACTAAG	ENSP00000354532.5:p.His20=
ENST00000553418.5:c.59_66delinsACACTAAG	ENSP00000450663.1:p.His20=
ENST00000553591.1:c.176_183delinsACACTAAG	ENSP00000452421.1:p.His59=
ENST00000554056.5:n.170_177delinsACACTAAG
ENST00000554065.1:c.-179_-172delinsACACTAAG	ENSP00000451108.1:n.-179_-172delinsACACTA...
ENST00000556293.5:n.178_185delinsACACTAAG
ENST00000557229.5:n.178_185delinsACACTAAG
NM_000270.3:c.59_66delinsACACTAAG , LRG_91t1:c.59_66delinsACACTAAG	NP_000261.2:p.His20=
NM_000270.4:c.59_66delinsACACTAAG MANE Select	NP_000261.2:p.His20=