Canonical Allele Identifier: CA2579271870

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574948_143574950dup , CM000670.2:g.143574948_143574950dup	GRCh38
NC_000008.10:g.144657118_144657120dup , CM000670.1:g.144657118_144657120dup	GRCh37
NC_000008.9:g.144728261_144728263dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+36_1554+38dup MANE Select	ENSP00000401508.2:n.1554+36_1554+38dup
ENST00000340490.7:c.1590_1592dup	ENSP00000341136.3:p.Arg531_Pro532insArg
ENST00000426292.7:c.1515+36_1515+38dup	ENSP00000390949.3:n.1515+36_1515+38dup
ENST00000435154.7:c.*214_*216dup	ENSP00000405670.3:n.*214_*216dup
ENST00000449291.6:c.1554+36_1554+38dup	ENSP00000401508.2:n.1554+36_1554+38dup
ENST00000460623.5:c.529_531dup
ENST00000464332.5:n.1098+36_1098+38dup
ENST00000498076.5:n.333+36_333+38dup
ENST00000529179.1:n.338+36_338+38dup
NM_001286829.1:c.1515+36_1515+38dup	NP_001273758.1:n.1515+36_1515+38dup
NM_145201.5:c.1554+36_1554+38dup	NP_660202.3:n.1554+36_1554+38dup
XM_011517377.1:c.1292-50_1292-48dup	XP_011515679.1:n.1292-50_1292-48dup
NM_001363145.1:c.1473+36_1473+38dup	NP_001350074.1:n.1473+36_1473+38dup
NM_001363146.1:c.870+36_870+38dup	NP_001350075.1:n.870+36_870+38dup
XM_017013975.2:c.1809_1811dup	XP_016869464.1:p.Arg604_Pro605insArg
XM_017013976.2:c.1773+36_1773+38dup	XP_016869465.1:n.1773+36_1773+38dup
XM_017013977.2:c.1509_1511dup	XP_016869466.1:p.Arg504_Pro505insArg
XM_017013978.2:c.1511-50_1511-48dup	XP_016869467.1:n.1511-50_1511-48dup
XM_017013979.2:c.906_908dup	XP_016869468.1:p.Arg303_Pro304insArg
XM_024447332.1:c.929-50_929-48dup	XP_024303100.1:n.929-50_929-48dup
XM_024447333.1:c.825_827dup	XP_024303101.1:p.Arg276_Pro277insArg
NM_145201.6:c.1554+36_1554+38dup MANE Select	NP_660202.3:n.1554+36_1554+38dup
NM_001286829.2:c.1515+36_1515+38dup	NP_001273758.1:n.1515+36_1515+38dup