Canonical Allele Identifier: CA2688943649

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575273-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575274dup , CM000670.2:g.143575274dup	GRCh38
NC_000008.10:g.144657444dup , CM000670.1:g.144657444dup	GRCh37
NC_000008.9:g.144728587dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1363dup MANE Select	ENSP00000401508.2:p.Trp455LeufsTer?
ENST00000340490.7:c.1363dup	ENSP00000341136.3:p.Trp455LeufsTer?
ENST00000426292.7:c.1363dup	ENSP00000390949.3:p.Trp455LeufsTer18
ENST00000435154.7:c.1363dup	ENSP00000405670.3:p.Trp455LeufsTer?
ENST00000449291.6:c.1363dup	ENSP00000401508.2:p.Trp455LeufsTer?
ENST00000460623.5:c.341dup
ENST00000464332.5:n.907dup
ENST00000498076.5:n.142dup
ENST00000529179.1:n.50dup
NM_001286829.1:c.1363dup	NP_001273758.1:p.Trp455LeufsTer18
NM_145201.5:c.1363dup	NP_660202.3:p.Trp455LeufsTer?
XM_011517377.1:c.1291+149dup	XP_011515679.1:n.1291+149dup
NM_001363145.1:c.1282dup	NP_001350074.1:p.Trp428LeufsTer?
NM_001363146.1:c.679dup	NP_001350075.1:p.Trp227LeufsTer?
XM_017013975.2:c.1582dup	XP_016869464.1:p.Trp528LeufsTer?
XM_017013976.2:c.1582dup	XP_016869465.1:p.Trp528LeufsTer?
XM_017013977.2:c.1282dup	XP_016869466.1:p.Trp428LeufsTer?
XM_017013978.2:c.1510+149dup	XP_016869467.1:n.1510+149dup
XM_017013979.2:c.679dup	XP_016869468.1:p.Trp227LeufsTer?
XM_024447332.1:c.928+149dup	XP_024303100.1:n.928+149dup
XM_024447333.1:c.598dup	XP_024303101.1:p.Trp200LeufsTer?
NM_145201.6:c.1363dup MANE Select	NP_660202.3:p.Trp455LeufsTer?
NM_001286829.2:c.1363dup	NP_001273758.1:p.Trp455LeufsTer18