Canonical Allele Identifier: CA7082024

Gene: PNP

Linked Data

• dbSNP Id: rs763942939
• ExAC: 14:20940669 AGG / A
• gnomAD v2: 14-20940669-AGG-A
• gnomAD v3: 14-20472510-AGG-A
• gnomAD v4: 14-20472510-AGG-A
• MyVariant Identifiers: chr14:g.20940670_20940671del (hg19) ; chr14:g.20472511_20472512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472512_20472513del , CM000676.2:g.20472512_20472513del	GRCh38
NC_000014.8:g.20940671_20940672del , CM000676.1:g.20940671_20940672del	GRCh37
NC_000014.7:g.20010511_20010512del	NCBI36
NG_009631.1:g.8130_8131del , LRG_91:g.8130_8131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.298+35_298+36del	ENSP00000452421.2:n.298+35_298+36del
ENST00000556293.6:n.335_336del
ENST00000556754.2:n.1278_1279del
ENST00000557229.6:n.300+35_300+36del
ENST00000697613.1:c.181+35_181+36del	ENSP00000513359.1:n.181+35_181+36del
ENST00000697614.1:c.-57+35_-57+36del	ENSP00000513360.1:n.-57+35_-57+36del
ENST00000697615.1:n.699+35_699+36del
ENST00000361505.10:c.181+35_181+36del MANE Select	ENSP00000354532.6:n.181+35_181+36del
ENST00000361505.9:c.181+35_181+36del	ENSP00000354532.5:n.181+35_181+36del
ENST00000553418.5:c.181+35_181+36del	ENSP00000450663.1:n.181+35_181+36del
ENST00000553591.1:c.298+35_298+36del	ENSP00000452421.1:n.298+35_298+36del
ENST00000554056.5:n.292+35_292+36del
ENST00000554065.1:c.-57+35_-57+36del	ENSP00000451108.1:n.-57+35_-57+36del
ENST00000556293.5:n.335_336del
ENST00000557229.5:n.300+35_300+36del
NM_000270.3:c.181+35_181+36del , LRG_91t1:c.181+35_181+36del	NP_000261.2:n.181+35_181+36del
NM_000270.4:c.181+35_181+36del MANE Select	NP_000261.2:n.181+35_181+36del