Canonical Allele Identifier: CA2122044000

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472599_20472601delinsAAG , CM000676.2:g.20472599_20472601delinsAAG	GRCh38
NC_000014.8:g.20940758_20940760delinsAAG , CM000676.1:g.20940758_20940760delinsAAG	GRCh37
NC_000014.7:g.20010598_20010600delinsAAG	NCBI36
NG_009631.1:g.8217_8219delinsAAG , LRG_91:g.8217_8219delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.298+122_298+124delinsAAG	ENSP00000452421.2:n.298+122_298+124delinsAAG
ENST00000556293.6:n.422_424delinsAAG
ENST00000556754.2:n.1365_1367delinsAAG
ENST00000557229.6:n.300+122_300+124delinsAAG
ENST00000697613.1:c.181+122_181+124delinsAAG	ENSP00000513359.1:n.181+122_181+124delinsAAG
ENST00000697614.1:c.-57+122_-57+124delinsAAG	ENSP00000513360.1:n.-57+122_-57+124delinsAAG
ENST00000697615.1:n.699+122_699+124delinsAAG
ENST00000361505.10:c.181+122_181+124delinsAAG MANE Select	ENSP00000354532.6:n.181+122_181+124delinsAAG
ENST00000361505.9:c.181+122_181+124delinsAAG	ENSP00000354532.5:n.181+122_181+124delinsAAG
ENST00000553418.5:c.181+122_181+124delinsAAG	ENSP00000450663.1:n.181+122_181+124delinsAAG
ENST00000553591.1:c.298+122_298+124delinsAAG	ENSP00000452421.1:n.298+122_298+124delinsAAG
ENST00000554056.5:n.292+122_292+124delinsAAG
ENST00000554065.1:c.-57+122_-57+124delinsAAG	ENSP00000451108.1:n.-57+122_-57+124delinsAAG
ENST00000556293.5:n.422_424delinsAAG
ENST00000557229.5:n.300+122_300+124delinsAAG
NM_000270.3:c.181+122_181+124delinsAAG , LRG_91t1:c.181+122_181+124delinsAAG	NP_000261.2:n.181+122_181+124delinsAAG
NM_000270.4:c.181+122_181+124delinsAAG MANE Select	NP_000261.2:n.181+122_181+124delinsAAG