Canonical Allele Identifier: CA1252401123

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672157_55672161delinsATACT , CM000664.2:g.55672157_55672161delinsATACT	GRCh38
NC_000002.11:g.55899292_55899296delinsATACT , CM000664.1:g.55899292_55899296delinsATACT	GRCh37
NC_000002.10:g.55752796_55752800delinsATACT	NCBI36
NG_033012.1:g.26750_26754delinsAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-115_867-111delinsAGTAT MANE Select	ENSP00000400646.2:n.867-115_867-111delinsAGTAT
ENST00000260604.8:c.*422-115_*422-111delinsAGTAT	ENSP00000260604.4:n.*422-115_*422-111delinsAGTAT
ENST00000415374.5:c.867-115_867-111delinsAGTAT	ENSP00000393953.1:n.867-115_867-111delinsAGTAT
ENST00000447944.6:c.867-115_867-111delinsAGTAT	ENSP00000400646.2:n.867-115_867-111delinsAGTAT
NM_033109.4:c.867-115_867-111delinsAGTAT	NP_149100.2:n.867-115_867-111delinsAGTAT
XM_005264629.1:c.627-115_627-111delinsAGTAT	XP_005264686.1:n.627-115_627-111delinsAGTAT
XM_011533142.1:c.867-115_867-111delinsAGTAT	XP_011531444.1:n.867-115_867-111delinsAGTAT
XM_005264629.2:c.627-115_627-111delinsAGTAT	XP_005264686.1:n.627-115_627-111delinsAGTAT
XM_017005172.1:c.627-115_627-111delinsAGTAT	XP_016860661.1:n.627-115_627-111delinsAGTAT
XR_001739010.1:n.897-115_897-111delinsAGTAT
NM_033109.5:c.867-115_867-111delinsAGTAT MANE Select	NP_149100.2:n.867-115_867-111delinsAGTAT