Canonical Allele Identifier: CA1825861202
Gene: NAPRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575017_143575033delinsTGCTCAGGGCTGAGTCG , CM000670.2:g.143575017_143575033delinsTGCTCAGGGCTGAGTCG GRCh38
NC_000008.10:g.144657187_144657203delinsTGCTCAGGGCTGAGTCG , CM000670.1:g.144657187_144657203delinsTGCTCAGGGCTGAGTCG GRCh37
NC_000008.9:g.144728330_144728346delinsTGCTCAGGGCTGAGTCG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1507_1523delinsCGACTCAGCCCTGAGCA MANE Select ENSP00000401508.2:p.Arg503=
ENST00000340490.7:c.1507_1523delinsCGACTCAGCCCTGAGCA ENSP00000341136.3:p.Arg503=
ENST00000426292.7:c.1468_1484delinsCGACTCAGCCCTGAGCA ENSP00000390949.3:p.Arg490=
ENST00000435154.7:c.*131_*147delinsCGACTCAGCCCTGAGCA ENSP00000405670.3:n.*131_*147delinsCGACTCAGCCCTGAGCA
ENST00000449291.6:c.1507_1523delinsCGACTCAGCCCTGAGCA ENSP00000401508.2:p.Arg503=
ENST00000460623.5:c.446_462delinsCGACTCAGCCCTGAGCA
ENST00000464332.5:n.1051_1067delinsCGACTCAGCCCTGAGCA
ENST00000498076.5:n.286_302delinsCGACTCAGCCCTGAGCA
ENST00000529179.1:n.291_307delinsCGACTCAGCCCTGAGCA
NM_001286829.1:c.1468_1484delinsCGACTCAGCCCTGAGCA NP_001273758.1:p.Arg490=
NM_145201.5:c.1507_1523delinsCGACTCAGCCCTGAGCA NP_660202.3:p.Arg503=
XM_011517377.1:c.1292-133_1292-117delinsCGACTCAGCCCTGAGCA XP_011515679.1:n.1292-133_1292-117delinsCGACTCAGCCCTGAGCA
NM_001363145.1:c.1426_1442delinsCGACTCAGCCCTGAGCA NP_001350074.1:p.Arg476=
NM_001363146.1:c.823_839delinsCGACTCAGCCCTGAGCA NP_001350075.1:p.Arg275=
XM_017013975.2:c.1726_1742delinsCGACTCAGCCCTGAGCA XP_016869464.1:p.Arg576=
XM_017013976.2:c.1726_1742delinsCGACTCAGCCCTGAGCA XP_016869465.1:p.Arg576=
XM_017013977.2:c.1426_1442delinsCGACTCAGCCCTGAGCA XP_016869466.1:p.Arg476=
XM_017013978.2:c.1511-133_1511-117delinsCGACTCAGCCCTGAGCA XP_016869467.1:n.1511-133_1511-117delinsCGACTCAGCCCTGAGCA
XM_017013979.2:c.823_839delinsCGACTCAGCCCTGAGCA XP_016869468.1:p.Arg275=
XM_024447332.1:c.929-133_929-117delinsCGACTCAGCCCTGAGCA XP_024303100.1:n.929-133_929-117delinsCGACTCAGCCCTGAGCA
XM_024447333.1:c.742_758delinsCGACTCAGCCCTGAGCA XP_024303101.1:p.Arg248=
NM_145201.6:c.1507_1523delinsCGACTCAGCCCTGAGCA MANE Select NP_660202.3:p.Arg503=
NM_001286829.2:c.1468_1484delinsCGACTCAGCCCTGAGCA NP_001273758.1:p.Arg490=