Canonical Allele Identifier: CA2535404905

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643170_55643171insATTT , CM000664.2:g.55643170_55643171insATTT	GRCh38
NC_000002.11:g.55870305_55870306insATTT , CM000664.1:g.55870305_55870306insATTT	GRCh37
NC_000002.10:g.55723809_55723810insATTT	NCBI36
NG_033012.1:g.55740_55741insAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2056_2057insAAAT MANE Select	ENSP00000400646.2:p.Ile686LysfsTer4
ENST00000260604.8:c.*1598_*1599insAAAT	ENSP00000260604.4:n.*1598_*1599insAAAT
ENST00000415374.5:c.2056_2057insAAAT	ENSP00000393953.1:p.Ile686LysfsTer4
ENST00000447944.6:c.2056_2057insAAAT	ENSP00000400646.2:p.Ile686LysfsTer4
ENST00000481066.1:n.1118_1119insAAAT
NM_033109.4:c.2056_2057insAAAT	NP_149100.2:p.Ile686LysfsTer4
XM_005264629.1:c.1816_1817insAAAT	XP_005264686.1:p.Ile606LysfsTer4
XM_005264629.2:c.1816_1817insAAAT	XP_005264686.1:p.Ile606LysfsTer4
XM_017005172.1:c.1816_1817insAAAT	XP_016860661.1:p.Ile606LysfsTer4
NM_033109.5:c.2056_2057insAAAT MANE Select	NP_149100.2:p.Ile686LysfsTer4