Canonical Allele Identifier: CA704018843

Gene: PNP

Linked Data

• dbSNP Id: rs1172293304
• gnomAD v3: 14-20471992-CATAAGG-C
• gnomAD v4: 14-20471992-CATAAGG-C
• MyVariant Identifiers: chr14:g.20940152_20940157del (hg19) ; chr14:g.20471993_20471998del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20471998_20472003del , CM000676.2:g.20471998_20472003del	GRCh38
NC_000014.8:g.20940157_20940162del , CM000676.1:g.20940157_20940162del	GRCh37
NC_000014.7:g.20009997_20010002del	NCBI36
NG_009631.1:g.7616_7621del , LRG_91:g.7616_7621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.129-310_129-305del	ENSP00000452421.2:n.129-310_129-305del
ENST00000556293.6:n.131-310_131-305del
ENST00000556754.2:n.764_769del
ENST00000557229.6:n.131-310_131-305del
ENST00000697613.1:c.12-310_12-305del	ENSP00000513359.1:n.12-310_12-305del
ENST00000697614.1:c.-226-310_-226-305del	ENSP00000513360.1:n.-226-310_-226-305del
ENST00000697615.1:n.220_225del
ENST00000361505.10:c.12-310_12-305del MANE Select	ENSP00000354532.6:n.12-310_12-305del
ENST00000361505.9:c.12-310_12-305del	ENSP00000354532.5:n.12-310_12-305del
ENST00000553418.5:c.12-310_12-305del	ENSP00000450663.1:n.12-310_12-305del
ENST00000553591.1:c.129-310_129-305del	ENSP00000452421.1:n.129-310_129-305del
ENST00000554056.5:n.123-310_123-305del
ENST00000554065.1:c.-226-310_-226-305del	ENSP00000451108.1:n.-226-310_-226-305del
ENST00000556293.5:n.131-310_131-305del
ENST00000557229.5:n.131-310_131-305del
NM_000270.3:c.12-310_12-305del , LRG_91t1:c.12-310_12-305del	NP_000261.2:n.12-310_12-305del
NM_000270.4:c.12-310_12-305del MANE Select	NP_000261.2:n.12-310_12-305del