Canonical Allele Identifier: CA2560572343

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643165_55643166del , CM000664.2:g.55643165_55643166del	GRCh38
NC_000002.11:g.55870300_55870301del , CM000664.1:g.55870300_55870301del	GRCh37
NC_000002.10:g.55723804_55723805del	NCBI36
NG_033012.1:g.55745_55746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2061_2062del MANE Select	ENSP00000400646.2:p.Glu688AsnfsTer21
ENST00000260604.8:c.*1603_*1604del	ENSP00000260604.4:n.*1603_*1604del
ENST00000415374.5:c.2061_2062del	ENSP00000393953.1:p.Glu688AsnfsTer21
ENST00000447944.6:c.2061_2062del	ENSP00000400646.2:p.Glu688AsnfsTer21
ENST00000481066.1:n.1123_1124del
NM_033109.4:c.2061_2062del	NP_149100.2:p.Glu688AsnfsTer21
XM_005264629.1:c.1821_1822del	XP_005264686.1:p.Glu608AsnfsTer21
XM_005264629.2:c.1821_1822del	XP_005264686.1:p.Glu608AsnfsTer21
XM_017005172.1:c.1821_1822del	XP_016860661.1:p.Glu608AsnfsTer21
NM_033109.5:c.2061_2062del MANE Select	NP_149100.2:p.Glu688AsnfsTer21