Canonical Allele Identifier: CA1825861190

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574994_143574995delinsGT , CM000670.2:g.143574994_143574995delinsGT	GRCh38
NC_000008.10:g.144657164_144657165delinsGT , CM000670.1:g.144657164_144657165delinsGT	GRCh37
NC_000008.9:g.144728307_144728308delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1545_1546delinsAC MANE Select	ENSP00000401508.2:p.Ala515=
ENST00000340490.7:c.1545_1546delinsAC	ENSP00000341136.3:p.Ala515=
ENST00000426292.7:c.1506_1507delinsAC	ENSP00000390949.3:p.Ala502=
ENST00000435154.7:c.*169_*170delinsAC	ENSP00000405670.3:n.*169_*170delinsAC
ENST00000449291.6:c.1545_1546delinsAC	ENSP00000401508.2:p.Ala515=
ENST00000460623.5:c.484_485delinsAC
ENST00000464332.5:n.1089_1090delinsAC
ENST00000498076.5:n.324_325delinsAC
ENST00000529179.1:n.329_330delinsAC
NM_001286829.1:c.1506_1507delinsAC	NP_001273758.1:p.Ala502=
NM_145201.5:c.1545_1546delinsAC	NP_660202.3:p.Ala515=
XM_011517377.1:c.1292-95_1292-94delinsAC	XP_011515679.1:n.1292-95_1292-94delinsAC
NM_001363145.1:c.1464_1465delinsAC	NP_001350074.1:p.Ala488=
NM_001363146.1:c.861_862delinsAC	NP_001350075.1:p.Ala287=
XM_017013975.2:c.1764_1765delinsAC	XP_016869464.1:p.Ala588=
XM_017013976.2:c.1764_1765delinsAC	XP_016869465.1:p.Ala588=
XM_017013977.2:c.1464_1465delinsAC	XP_016869466.1:p.Ala488=
XM_017013978.2:c.1511-95_1511-94delinsAC	XP_016869467.1:n.1511-95_1511-94delinsAC
XM_017013979.2:c.861_862delinsAC	XP_016869468.1:p.Ala287=
XM_024447332.1:c.929-95_929-94delinsAC	XP_024303100.1:n.929-95_929-94delinsAC
XM_024447333.1:c.780_781delinsAC	XP_024303101.1:p.Ala260=
NM_145201.6:c.1545_1546delinsAC MANE Select	NP_660202.3:p.Ala515=
NM_001286829.2:c.1506_1507delinsAC	NP_001273758.1:p.Ala502=