Canonical Allele Identifier: CA2579271864

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574860dup , CM000670.2:g.143574860dup	GRCh38
NC_000008.10:g.144657030dup , CM000670.1:g.144657030dup	GRCh37
NC_000008.9:g.144728173dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1595dup MANE Select	ENSP00000401508.2:p.Cys533ValfsTer?
ENST00000340490.7:c.1680dup	ENSP00000341136.3:p.Val561CysfsTer?
ENST00000426292.7:c.1556dup	ENSP00000390949.3:p.Cys520ValfsTer?
ENST00000435154.7:c.*304dup	ENSP00000405670.3:n.*304dup
ENST00000449291.6:c.1595dup	ENSP00000401508.2:p.Cys533ValfsTer?
ENST00000460623.5:c.619dup
ENST00000464332.5:n.1139dup
ENST00000498076.5:n.374dup
ENST00000529179.1:n.379dup
NM_001286829.1:c.1556dup	NP_001273758.1:p.Cys520ValfsTer?
NM_145201.5:c.1595dup	NP_660202.3:p.Cys533ValfsTer?
XM_011517377.1:c.1332dup	XP_011515679.1:p.Val445CysfsTer?
NM_001363145.1:c.1514dup	NP_001350074.1:p.Cys506ValfsTer?
NM_001363146.1:c.911dup	NP_001350075.1:p.Cys305ValfsTer?
XM_017013975.2:c.1899dup	XP_016869464.1:p.Val634CysfsTer?
XM_017013976.2:c.1814dup	XP_016869465.1:p.Cys606ValfsTer?
XM_017013977.2:c.1599dup	XP_016869466.1:p.Val534CysfsTer?
XM_017013978.2:c.1551dup	XP_016869467.1:p.Val518CysfsTer?
XM_017013979.2:c.996dup	XP_016869468.1:p.Val333CysfsTer?
XM_024447332.1:c.969dup	XP_024303100.1:p.Val324CysfsTer?
XM_024447333.1:c.915dup	XP_024303101.1:p.Val306CysfsTer?
NM_145201.6:c.1595dup MANE Select	NP_660202.3:p.Cys533ValfsTer?
NM_001286829.2:c.1556dup	NP_001273758.1:p.Cys520ValfsTer?