Canonical Allele Identifier: CA1825861342

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575250_143575251delinsAG , CM000670.2:g.143575250_143575251delinsAG	GRCh38
NC_000008.10:g.144657420_144657421delinsAG , CM000670.1:g.144657420_144657421delinsAG	GRCh37
NC_000008.9:g.144728563_144728564delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1386_1387delinsCT MANE Select	ENSP00000401508.2:p.Pro462=
ENST00000340490.7:c.1386_1387delinsCT	ENSP00000341136.3:p.Pro462=
ENST00000426292.7:c.1386_1387delinsCT	ENSP00000390949.3:p.Pro462=
ENST00000435154.7:c.1386_1387delinsCT	ENSP00000405670.3:p.Pro462=
ENST00000449291.6:c.1386_1387delinsCT	ENSP00000401508.2:p.Pro462=
ENST00000460623.5:c.364_365delinsCT
ENST00000464332.5:n.930_931delinsCT
ENST00000498076.5:n.165_166delinsCT
ENST00000529179.1:n.73_74delinsCT
NM_001286829.1:c.1386_1387delinsCT	NP_001273758.1:p.Pro462=
NM_145201.5:c.1386_1387delinsCT	NP_660202.3:p.Pro462=
XM_011517377.1:c.1291+172_1291+173delinsCT	XP_011515679.1:n.1291+172_1291+173delinsCT
NM_001363145.1:c.1305_1306delinsCT	NP_001350074.1:p.Pro435=
NM_001363146.1:c.702_703delinsCT	NP_001350075.1:p.Pro234=
XM_017013975.2:c.1605_1606delinsCT	XP_016869464.1:p.Pro535=
XM_017013976.2:c.1605_1606delinsCT	XP_016869465.1:p.Pro535=
XM_017013977.2:c.1305_1306delinsCT	XP_016869466.1:p.Pro435=
XM_017013978.2:c.1510+172_1510+173delinsCT	XP_016869467.1:n.1510+172_1510+173delinsCT
XM_017013979.2:c.702_703delinsCT	XP_016869468.1:p.Pro234=
XM_024447332.1:c.928+172_928+173delinsCT	XP_024303100.1:n.928+172_928+173delinsCT
XM_024447333.1:c.621_622delinsCT	XP_024303101.1:p.Pro207=
NM_145201.6:c.1386_1387delinsCT MANE Select	NP_660202.3:p.Pro462=
NM_001286829.2:c.1386_1387delinsCT	NP_001273758.1:p.Pro462=