Canonical Allele Identifier: CA1252398363

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666991_55666993delinsCTG , CM000664.2:g.55666991_55666993delinsCTG	GRCh38
NC_000002.11:g.55894126_55894128delinsCTG , CM000664.1:g.55894126_55894128delinsCTG	GRCh37
NC_000002.10:g.55747630_55747632delinsCTG	NCBI36
NG_033012.1:g.31918_31920delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1174_1176delinsCAG MANE Select	ENSP00000400646.2:p.Gln392=
ENST00000260604.8:c.*729_*731delinsCAG	ENSP00000260604.4:n.*729_*731delinsCAG
ENST00000415374.5:c.1174_1176delinsCAG	ENSP00000393953.1:p.Gln392=
ENST00000415489.1:c.248_250delinsCAG
ENST00000447944.6:c.1174_1176delinsCAG	ENSP00000400646.2:p.Gln392=
NM_033109.4:c.1174_1176delinsCAG	NP_149100.2:p.Gln392=
XM_005264629.1:c.934_936delinsCAG	XP_005264686.1:p.Gln312=
XM_011533142.1:c.1174_1176delinsCAG	XP_011531444.1:p.Gln392=
XM_005264629.2:c.934_936delinsCAG	XP_005264686.1:p.Gln312=
XM_017005172.1:c.934_936delinsCAG	XP_016860661.1:p.Gln312=
XR_001739010.1:n.1204_1206delinsCAG
NM_033109.5:c.1174_1176delinsCAG MANE Select	NP_149100.2:p.Gln392=