Canonical Allele Identifier: CA2624009875

Gene: PNP

Linked Data

• gnomAD v4: 14-20472706-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472706_20472707insCTG , CM000676.2:g.20472706_20472707insCTG	GRCh38
NC_000014.8:g.20940865_20940866insCTG , CM000676.1:g.20940865_20940866insCTG	GRCh37
NC_000014.7:g.20010705_20010706insCTG	NCBI36
NG_009631.1:g.8324_8325insCTG , LRG_91:g.8324_8325insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.298+229_298+230insCTG	ENSP00000452421.2:n.298+229_298+230insCTG
ENST00000556293.6:n.529_530insCTG
ENST00000556754.2:n.1472_1473insCTG
ENST00000557229.6:n.300+229_300+230insCTG
ENST00000697613.1:c.181+229_181+230insCTG	ENSP00000513359.1:n.181+229_181+230insCTG
ENST00000697614.1:c.-57+229_-57+230insCTG	ENSP00000513360.1:n.-57+229_-57+230insCTG
ENST00000697615.1:n.699+229_699+230insCTG
ENST00000361505.10:c.181+229_181+230insCTG MANE Select	ENSP00000354532.6:n.181+229_181+230insCTG
ENST00000361505.9:c.181+229_181+230insCTG	ENSP00000354532.5:n.181+229_181+230insCTG
ENST00000553418.5:c.181+229_181+230insCTG	ENSP00000450663.1:n.181+229_181+230insCTG
ENST00000553591.1:c.298+229_298+230insCTG	ENSP00000452421.1:n.298+229_298+230insCTG
ENST00000554056.5:n.292+229_292+230insCTG
ENST00000554065.1:c.-57+229_-57+230insCTG	ENSP00000451108.1:n.-57+229_-57+230insCTG
ENST00000556293.5:n.529_530insCTG
ENST00000557229.5:n.300+229_300+230insCTG
NM_000270.3:c.181+229_181+230insCTG , LRG_91t1:c.181+229_181+230insCTG	NP_000261.2:n.181+229_181+230insCTG
NM_000270.4:c.181+229_181+230insCTG MANE Select	NP_000261.2:n.181+229_181+230insCTG