Canonical Allele Identifier: CA704018965

Gene: PNP

Linked Data

• ClinVar Variation Id: 2743855
• ClinVar RCV Id: RCV003516626
• dbSNP Id: rs1328132988
• MyVariant Identifiers: chr14:g.20940460del (hg19) ; chr14:g.20472301del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472305del , CM000676.2:g.20472305del	GRCh38
NC_000014.8:g.20940464del , CM000676.1:g.20940464del	GRCh37
NC_000014.7:g.20010304del	NCBI36
NG_009631.1:g.7923del , LRG_91:g.7923del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.129-3del	ENSP00000452421.2:n.129-3del
ENST00000556293.6:n.131-3del
ENST00000556754.2:n.1071del
ENST00000557229.6:n.131-3del
ENST00000697613.1:c.12-3del	ENSP00000513359.1:n.12-3del
ENST00000697614.1:c.-226-3del	ENSP00000513360.1:n.-226-3del
ENST00000697615.1:n.527del
ENST00000361505.10:c.12-3del MANE Select	ENSP00000354532.6:n.12-3del
ENST00000361505.9:c.12-3del	ENSP00000354532.5:n.12-3del
ENST00000553418.5:c.12-3del	ENSP00000450663.1:n.12-3del
ENST00000553591.1:c.129-3del	ENSP00000452421.1:n.129-3del
ENST00000554056.5:n.123-3del
ENST00000554065.1:c.-226-3del	ENSP00000451108.1:n.-226-3del
ENST00000556293.5:n.131-3del
ENST00000557229.5:n.131-3del
NM_000270.3:c.12-3del , LRG_91t1:c.12-3del	NP_000261.2:n.12-3del
NM_000270.4:c.12-3del MANE Select	NP_000261.2:n.12-3del