Canonical Allele Identifier: CA1252401120

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672151_55672155delinsTAATA , CM000664.2:g.55672151_55672155delinsTAATA	GRCh38
NC_000002.11:g.55899286_55899290delinsTAATA , CM000664.1:g.55899286_55899290delinsTAATA	GRCh37
NC_000002.10:g.55752790_55752794delinsTAATA	NCBI36
NG_033012.1:g.26756_26760delinsTATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-109_867-105delinsTATTA MANE Select	ENSP00000400646.2:n.867-109_867-105delinsTATTA
ENST00000260604.8:c.*422-109_*422-105delinsTATTA	ENSP00000260604.4:n.*422-109_*422-105delinsTATTA
ENST00000415374.5:c.867-109_867-105delinsTATTA	ENSP00000393953.1:n.867-109_867-105delinsTATTA
ENST00000447944.6:c.867-109_867-105delinsTATTA	ENSP00000400646.2:n.867-109_867-105delinsTATTA
NM_033109.4:c.867-109_867-105delinsTATTA	NP_149100.2:n.867-109_867-105delinsTATTA
XM_005264629.1:c.627-109_627-105delinsTATTA	XP_005264686.1:n.627-109_627-105delinsTATTA
XM_011533142.1:c.867-109_867-105delinsTATTA	XP_011531444.1:n.867-109_867-105delinsTATTA
XM_005264629.2:c.627-109_627-105delinsTATTA	XP_005264686.1:n.627-109_627-105delinsTATTA
XM_017005172.1:c.627-109_627-105delinsTATTA	XP_016860661.1:n.627-109_627-105delinsTATTA
XR_001739010.1:n.897-109_897-105delinsTATTA
NM_033109.5:c.867-109_867-105delinsTATTA MANE Select	NP_149100.2:n.867-109_867-105delinsTATTA