Canonical Allele Identifier: CA1252401163

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672244_55672245delinsTC , CM000664.2:g.55672244_55672245delinsTC	GRCh38
NC_000002.11:g.55899379_55899380delinsTC , CM000664.1:g.55899379_55899380delinsTC	GRCh37
NC_000002.10:g.55752883_55752884delinsTC	NCBI36
NG_033012.1:g.26666_26667delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-199_867-198delinsGA MANE Select	ENSP00000400646.2:n.867-199_867-198delinsGA
ENST00000260604.8:c.*422-199_*422-198delinsGA	ENSP00000260604.4:n.*422-199_*422-198delinsGA
ENST00000415374.5:c.867-199_867-198delinsGA	ENSP00000393953.1:n.867-199_867-198delinsGA
ENST00000447944.6:c.867-199_867-198delinsGA	ENSP00000400646.2:n.867-199_867-198delinsGA
NM_033109.4:c.867-199_867-198delinsGA	NP_149100.2:n.867-199_867-198delinsGA
XM_005264629.1:c.627-199_627-198delinsGA	XP_005264686.1:n.627-199_627-198delinsGA
XM_011533142.1:c.867-199_867-198delinsGA	XP_011531444.1:n.867-199_867-198delinsGA
XM_005264629.2:c.627-199_627-198delinsGA	XP_005264686.1:n.627-199_627-198delinsGA
XM_017005172.1:c.627-199_627-198delinsGA	XP_016860661.1:n.627-199_627-198delinsGA
XR_001739010.1:n.897-199_897-198delinsGA
NM_033109.5:c.867-199_867-198delinsGA MANE Select	NP_149100.2:n.867-199_867-198delinsGA