Canonical Allele Identifier: CA704019280

Gene: PNP

Linked Data

• dbSNP Id: rs1305792719
• MyVariant Identifiers: chr14:g.20940621_20940622insA (hg19) ; chr14:g.20472462_20472463insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472462_20472463insA , CM000676.2:g.20472462_20472463insA	GRCh38
NC_000014.8:g.20940621_20940622insA , CM000676.1:g.20940621_20940622insA	GRCh37
NC_000014.7:g.20010461_20010462insA	NCBI36
NG_009631.1:g.8080_8081insA , LRG_91:g.8080_8081insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.283_284insA	ENSP00000452421.2:p.Phe95TyrfsTer?
ENST00000556293.6:n.285_286insA
ENST00000556754.2:n.1228_1229insA
ENST00000557229.6:n.285_286insA
ENST00000697613.1:c.166_167insA	ENSP00000513359.1:p.Phe56TyrfsTer?
ENST00000697614.1:c.-72_-71insA	ENSP00000513360.1:n.-72_-71insA
ENST00000697615.1:n.684_685insA
ENST00000361505.10:c.166_167insA MANE Select	ENSP00000354532.6:p.Phe56TyrfsTer?
ENST00000361505.9:c.166_167insA	ENSP00000354532.5:p.Phe56TyrfsTer?
ENST00000553418.5:c.166_167insA	ENSP00000450663.1:p.Phe56TyrfsTer?
ENST00000553591.1:c.283_284insA	ENSP00000452421.1:p.Phe95TyrfsTer?
ENST00000554056.5:n.277_278insA
ENST00000554065.1:c.-72_-71insA	ENSP00000451108.1:n.-72_-71insA
ENST00000556293.5:n.285_286insA
ENST00000557229.5:n.285_286insA
NM_000270.3:c.166_167insA , LRG_91t1:c.166_167insA	NP_000261.2:p.Phe56TyrfsTer?
NM_000270.4:c.166_167insA MANE Select	NP_000261.2:p.Phe56TyrfsTer?