Canonical Allele Identifier: CA1825861448

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575426_143575427delinsCA , CM000670.2:g.143575426_143575427delinsCA	GRCh38
NC_000008.10:g.144657596_144657597delinsCA , CM000670.1:g.144657596_144657597delinsCA	GRCh37
NC_000008.9:g.144728739_144728740delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1287_1288delinsTG MANE Select	ENSP00000401508.2:p.Ser429=
ENST00000340490.7:c.1287_1288delinsTG	ENSP00000341136.3:p.Ser429=
ENST00000426292.7:c.1287_1288delinsTG	ENSP00000390949.3:p.Ser429=
ENST00000435154.7:c.1287_1288delinsTG	ENSP00000405670.3:p.Ser429=
ENST00000449291.6:c.1287_1288delinsTG	ENSP00000401508.2:p.Ser429=
ENST00000460623.5:c.265_266delinsTG
ENST00000464332.5:n.831_832delinsTG
NM_001286829.1:c.1287_1288delinsTG	NP_001273758.1:p.Ser429=
NM_145201.5:c.1287_1288delinsTG	NP_660202.3:p.Ser429=
XM_011517377.1:c.1287_1288delinsTG	XP_011515679.1:p.Ser429=
NM_001363145.1:c.1206_1207delinsTG	NP_001350074.1:p.Ser402=
NM_001363146.1:c.603_604delinsTG	NP_001350075.1:p.Ser201=
XM_017013975.2:c.1506_1507delinsTG	XP_016869464.1:p.Ser502=
XM_017013976.2:c.1506_1507delinsTG	XP_016869465.1:p.Ser502=
XM_017013977.2:c.1206_1207delinsTG	XP_016869466.1:p.Ser402=
XM_017013978.2:c.1506_1507delinsTG	XP_016869467.1:p.Ser502=
XM_017013979.2:c.603_604delinsTG	XP_016869468.1:p.Ser201=
XM_024447332.1:c.924_925delinsTG	XP_024303100.1:p.Ser308=
XM_024447333.1:c.522_523delinsTG	XP_024303101.1:p.Ser174=
NM_145201.6:c.1287_1288delinsTG MANE Select	NP_660202.3:p.Ser429=
NM_001286829.2:c.1287_1288delinsTG	NP_001273758.1:p.Ser429=