Canonical Allele Identifier: CA1825861126

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574903_143574904delinsGC , CM000670.2:g.143574903_143574904delinsGC	GRCh38
NC_000008.10:g.144657073_144657074delinsGC , CM000670.1:g.144657073_144657074delinsGC	GRCh37
NC_000008.9:g.144728216_144728217delinsGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-4_1555-3delinsGC MANE Select	ENSP00000401508.2:n.1555-4_1555-3delinsGC
ENST00000340490.7:c.1636_1637delinsGC	ENSP00000341136.3:p.Ala546=
ENST00000426292.7:c.1516-4_1516-3delinsGC	ENSP00000390949.3:n.1516-4_1516-3delinsGC
ENST00000435154.7:c.*260_*261delinsGC	ENSP00000405670.3:n.*260_*261delinsGC
ENST00000449291.6:c.1555-4_1555-3delinsGC	ENSP00000401508.2:n.1555-4_1555-3delinsGC
ENST00000460623.5:c.575_576delinsGC
ENST00000464332.5:n.1099-4_1099-3delinsGC
ENST00000498076.5:n.334-4_334-3delinsGC
ENST00000529179.1:n.339-4_339-3delinsGC
NM_001286829.1:c.1516-4_1516-3delinsGC	NP_001273758.1:n.1516-4_1516-3delinsGC
NM_145201.5:c.1555-4_1555-3delinsGC	NP_660202.3:n.1555-4_1555-3delinsGC
XM_011517377.1:c.1292-4_1292-3delinsGC	XP_011515679.1:n.1292-4_1292-3delinsGC
NM_001363145.1:c.1474-4_1474-3delinsGC	NP_001350074.1:n.1474-4_1474-3delinsGC
NM_001363146.1:c.871-4_871-3delinsGC	NP_001350075.1:n.871-4_871-3delinsGC
XM_017013975.2:c.1855_1856delinsGC	XP_016869464.1:p.Ala619=
XM_017013976.2:c.1774-4_1774-3delinsGC	XP_016869465.1:n.1774-4_1774-3delinsGC
XM_017013977.2:c.1555_1556delinsGC	XP_016869466.1:p.Ala519=
XM_017013978.2:c.1511-4_1511-3delinsGC	XP_016869467.1:n.1511-4_1511-3delinsGC
XM_017013979.2:c.952_953delinsGC	XP_016869468.1:p.Ala318=
XM_024447332.1:c.929-4_929-3delinsGC	XP_024303100.1:n.929-4_929-3delinsGC
XM_024447333.1:c.871_872delinsGC	XP_024303101.1:p.Ala291=
NM_145201.6:c.1555-4_1555-3delinsGC MANE Select	NP_660202.3:n.1555-4_1555-3delinsGC
NM_001286829.2:c.1516-4_1516-3delinsGC	NP_001273758.1:n.1516-4_1516-3delinsGC