Canonical Allele Identifier: CA585728833

Gene: NAPRT

Linked Data

• dbSNP Id: rs1203127720
• gnomAD v2: 8-144657146-T-TC
• gnomAD v4: 8-143574976-T-TC
• MyVariant Identifiers: chr8:g.144657146_144657147insC (hg19) ; chr8:g.143574976_143574977insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574982dup , CM000670.2:g.143574982dup	GRCh38
NC_000008.10:g.144657152dup , CM000670.1:g.144657152dup	GRCh37
NC_000008.9:g.144728295dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+9dup MANE Select	ENSP00000401508.2:n.1554+9dup
ENST00000340490.7:c.1563dup	ENSP00000341136.3:p.Arg522GlufsTer?
ENST00000426292.7:c.1515+9dup	ENSP00000390949.3:n.1515+9dup
ENST00000435154.7:c.*187dup	ENSP00000405670.3:n.*187dup
ENST00000449291.6:c.1554+9dup	ENSP00000401508.2:n.1554+9dup
ENST00000460623.5:c.502dup
ENST00000464332.5:n.1098+9dup
ENST00000498076.5:n.333+9dup
ENST00000529179.1:n.338+9dup
NM_001286829.1:c.1515+9dup	NP_001273758.1:n.1515+9dup
NM_145201.5:c.1554+9dup	NP_660202.3:n.1554+9dup
XM_011517377.1:c.1292-77dup	XP_011515679.1:n.1292-77dup
NM_001363145.1:c.1473+9dup	NP_001350074.1:n.1473+9dup
NM_001363146.1:c.870+9dup	NP_001350075.1:n.870+9dup
XM_017013975.2:c.1782dup	XP_016869464.1:p.Arg595GlufsTer?
XM_017013976.2:c.1773+9dup	XP_016869465.1:n.1773+9dup
XM_017013977.2:c.1482dup	XP_016869466.1:p.Arg495GlufsTer?
XM_017013978.2:c.1511-77dup	XP_016869467.1:n.1511-77dup
XM_017013979.2:c.879dup	XP_016869468.1:p.Arg294GlufsTer?
XM_024447332.1:c.929-77dup	XP_024303100.1:n.929-77dup
XM_024447333.1:c.798dup	XP_024303101.1:p.Arg267GlufsTer?
NM_145201.6:c.1554+9dup MANE Select	NP_660202.3:n.1554+9dup
NM_001286829.2:c.1515+9dup	NP_001273758.1:n.1515+9dup