Canonical Allele Identifier: CA2557560733

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55681115_55681116insTAAGAAATCATAT , CM000664.2:g.55681115_55681116insTAAGAAATCATAT	GRCh38
NC_000002.11:g.55908250_55908251insTAAGAAATCATAT , CM000664.1:g.55908250_55908251insTAAGAAATCATAT	GRCh37
NC_000002.10:g.55761754_55761755insTAAGAAATCATAT	NCBI36
NG_033012.1:g.17795_17796insATATGATTTCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.454-198_454-197insATATGATTTCTTA MANE Select	ENSP00000400646.2:n.454-198_454-197insATATGATTTCTTA
ENST00000260604.8:c.454-198_454-197insATATGATTTCTTA	ENSP00000260604.4:n.454-198_454-197insATATGATTTCTTA
ENST00000415374.5:c.454-198_454-197insATATGATTTCTTA	ENSP00000393953.1:n.454-198_454-197insATATGATTTCTTA
ENST00000429805.1:c.*102-198_*102-197insATATGATTTCTTA	ENSP00000411994.1:n.*102-198_*102-197insATATGATTTCTTA
ENST00000447944.6:c.454-198_454-197insATATGATTTCTTA	ENSP00000400646.2:n.454-198_454-197insATATGATTTCTTA
NM_033109.4:c.454-198_454-197insATATGATTTCTTA	NP_149100.2:n.454-198_454-197insATATGATTTCTTA
XM_005264629.1:c.214-198_214-197insATATGATTTCTTA	XP_005264686.1:n.214-198_214-197insATATGATTTCTTA
XM_011533142.1:c.454-198_454-197insATATGATTTCTTA	XP_011531444.1:n.454-198_454-197insATATGATTTCTTA
XM_005264629.2:c.214-198_214-197insATATGATTTCTTA	XP_005264686.1:n.214-198_214-197insATATGATTTCTTA
XM_017005172.1:c.214-198_214-197insATATGATTTCTTA	XP_016860661.1:n.214-198_214-197insATATGATTTCTTA
XR_001739010.1:n.484-198_484-197insATATGATTTCTTA
NM_033109.5:c.454-198_454-197insATATGATTTCTTA MANE Select	NP_149100.2:n.454-198_454-197insATATGATTTCTTA