Canonical Allele Identifier: CA1120189543

Gene: NAPRT

Linked Data

• dbSNP Id: rs1563928742
• gnomAD v3: 8-143574942-C-CG
• gnomAD v4: 8-143574942-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574947dup , CM000670.2:g.143574947dup	GRCh38
NC_000008.10:g.144657117dup , CM000670.1:g.144657117dup	GRCh37
NC_000008.9:g.144728260dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-43dup MANE Select	ENSP00000401508.2:n.1555-43dup
ENST00000340490.7:c.1597dup	ENSP00000341136.3:p.Arg533ProfsTer26
ENST00000426292.7:c.1516-43dup	ENSP00000390949.3:n.1516-43dup
ENST00000435154.7:c.*221dup	ENSP00000405670.3:n.*221dup
ENST00000449291.6:c.1555-43dup	ENSP00000401508.2:n.1555-43dup
ENST00000460623.5:c.536dup
ENST00000464332.5:n.1099-43dup
ENST00000498076.5:n.334-43dup
ENST00000529179.1:n.339-43dup
NM_001286829.1:c.1516-43dup	NP_001273758.1:n.1516-43dup
NM_145201.5:c.1555-43dup	NP_660202.3:n.1555-43dup
XM_011517377.1:c.1292-43dup	XP_011515679.1:n.1292-43dup
NM_001363145.1:c.1474-43dup	NP_001350074.1:n.1474-43dup
NM_001363146.1:c.871-43dup	NP_001350075.1:n.871-43dup
XM_017013975.2:c.1816dup	XP_016869464.1:p.Arg606ProfsTer26
XM_017013976.2:c.1774-43dup	XP_016869465.1:n.1774-43dup
XM_017013977.2:c.1516dup	XP_016869466.1:p.Arg506ProfsTer26
XM_017013978.2:c.1511-43dup	XP_016869467.1:n.1511-43dup
XM_017013979.2:c.913dup	XP_016869468.1:p.Arg305ProfsTer26
XM_024447332.1:c.929-43dup	XP_024303100.1:n.929-43dup
XM_024447333.1:c.832dup	XP_024303101.1:p.Arg278ProfsTer26
NM_145201.6:c.1555-43dup MANE Select	NP_660202.3:n.1555-43dup
NM_001286829.2:c.1516-43dup	NP_001273758.1:n.1516-43dup