Canonical Allele Identifier: CA2688943881

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575456-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575459dup , CM000670.2:g.143575459dup	GRCh38
NC_000008.10:g.144657629dup , CM000670.1:g.144657629dup	GRCh37
NC_000008.9:g.144728772dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1257dup MANE Select	ENSP00000401508.2:p.Ser420GlufsTer11
ENST00000340490.7:c.1257dup	ENSP00000341136.3:p.Ser420GlufsTer11
ENST00000426292.7:c.1257dup	ENSP00000390949.3:p.Ser420GlufsTer11
ENST00000435154.7:c.1257dup	ENSP00000405670.3:p.Ser420GlufsTer11
ENST00000449291.6:c.1257dup	ENSP00000401508.2:p.Ser420GlufsTer11
ENST00000460623.5:c.235dup
ENST00000464332.5:n.801dup
ENST00000525583.5:c.1041dup
NM_001286829.1:c.1257dup	NP_001273758.1:p.Ser420GlufsTer11
NM_145201.5:c.1257dup	NP_660202.3:p.Ser420GlufsTer11
XM_011517377.1:c.1257dup	XP_011515679.1:p.Ser420GlufsTer11
NM_001363145.1:c.1176dup	NP_001350074.1:p.Ser393GlufsTer11
NM_001363146.1:c.573dup	NP_001350075.1:p.Ser192GlufsTer11
XM_017013975.2:c.1476dup	XP_016869464.1:p.Ser493GlufsTer11
XM_017013976.2:c.1476dup	XP_016869465.1:p.Ser493GlufsTer11
XM_017013977.2:c.1176dup	XP_016869466.1:p.Ser393GlufsTer11
XM_017013978.2:c.1476dup	XP_016869467.1:p.Ser493GlufsTer11
XM_017013979.2:c.573dup	XP_016869468.1:p.Ser192GlufsTer11
XM_024447332.1:c.894dup	XP_024303100.1:p.Ser299GlufsTer11
XM_024447333.1:c.492dup	XP_024303101.1:p.Ser165GlufsTer11
NM_145201.6:c.1257dup MANE Select	NP_660202.3:p.Ser420GlufsTer11
NM_001286829.2:c.1257dup	NP_001273758.1:p.Ser420GlufsTer11