Canonical Allele Identifier: CA2729174977

Gene: PNP

Linked Data

• dbSNP Id: rs2139335382

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472477_20472478insTGCCAG , CM000676.2:g.20472477_20472478insTGCCAG	GRCh38
NC_000014.8:g.20940636_20940637insTGCCAG , CM000676.1:g.20940636_20940637insTGCCAG	GRCh37
NC_000014.7:g.20010476_20010477insTGCCAG	NCBI36
NG_009631.1:g.8095_8096insTGCCAG , LRG_91:g.8095_8096insTGCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.298_298+1insTGCCAG	ENSP00000452421.2:p.Val100_Pro101insProVal
ENST00000556293.6:n.300_301insTGCCAG
ENST00000556754.2:n.1243_1244insTGCCAG
ENST00000557229.6:n.300_300+1insTGCCAG
ENST00000697613.1:c.181_181+1insTGCCAG	ENSP00000513359.1:p.Val61_Pro62insProVal
ENST00000697614.1:c.-57_-57+1insTGCCAG	ENSP00000513360.1:n.-57_-57+1insTGCCAG
ENST00000697615.1:n.699_699+1insTGCCAG
ENST00000361505.10:c.181_181+1insTGCCAG MANE Select	ENSP00000354532.6:p.Val61_Pro62insProVal
ENST00000361505.9:c.181_181+1insTGCCAG	ENSP00000354532.5:p.Val61_Pro62insProVal
ENST00000553418.5:c.181_181+1insTGCCAG	ENSP00000450663.1:p.Val61_Pro62insProVal
ENST00000553591.1:c.298_298+1insTGCCAG	ENSP00000452421.1:p.Val100_Pro101insProVal
ENST00000554056.5:n.292_292+1insTGCCAG
ENST00000554065.1:c.-57_-57+1insTGCCAG	ENSP00000451108.1:n.-57_-57+1insTGCCAG
ENST00000556293.5:n.300_301insTGCCAG
ENST00000557229.5:n.300_300+1insTGCCAG
NM_000270.3:c.181_181+1insTGCCAG , LRG_91t1:c.181_181+1insTGCCAG	NP_000261.2:p.Val61_Pro62insProVal
NM_000270.4:c.181_181+1insTGCCAG MANE Select	NP_000261.2:p.Val61_Pro62insProVal