Canonical Allele Identifier: CA1252398333

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666943_55666947delinsTAAAC , CM000664.2:g.55666943_55666947delinsTAAAC	GRCh38
NC_000002.11:g.55894078_55894082delinsTAAAC , CM000664.1:g.55894078_55894082delinsTAAAC	GRCh37
NC_000002.10:g.55747582_55747586delinsTAAAC	NCBI36
NG_033012.1:g.31964_31968delinsGTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+44_1176+48delinsGTTTA MANE Select	ENSP00000400646.2:n.1176+44_1176+48delinsGTTTA
ENST00000260604.8:c.*731+44_*731+48delinsGTTTA	ENSP00000260604.4:n.*731+44_*731+48delinsGTTTA
ENST00000415374.5:c.1176+44_1176+48delinsGTTTA	ENSP00000393953.1:n.1176+44_1176+48delinsGTTTA
ENST00000415489.1:c.250+44_250+48delinsGTTTA
ENST00000447944.6:c.1176+44_1176+48delinsGTTTA	ENSP00000400646.2:n.1176+44_1176+48delinsGTTTA
NM_033109.4:c.1176+44_1176+48delinsGTTTA	NP_149100.2:n.1176+44_1176+48delinsGTTTA
XM_005264629.1:c.936+44_936+48delinsGTTTA	XP_005264686.1:n.936+44_936+48delinsGTTTA
XM_011533142.1:c.1176+44_1176+48delinsGTTTA	XP_011531444.1:n.1176+44_1176+48delinsGTTTA
XM_005264629.2:c.936+44_936+48delinsGTTTA	XP_005264686.1:n.936+44_936+48delinsGTTTA
XM_017005172.1:c.936+44_936+48delinsGTTTA	XP_016860661.1:n.936+44_936+48delinsGTTTA
XR_001739010.1:n.1206+44_1206+48delinsGTTTA
NM_033109.5:c.1176+44_1176+48delinsGTTTA MANE Select	NP_149100.2:n.1176+44_1176+48delinsGTTTA