Canonical Allele Identifier: CA1825861426
Gene: NAPRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575400_143575401delinsCA , CM000670.2:g.143575400_143575401delinsCA GRCh38
NC_000008.10:g.144657570_144657571delinsCA , CM000670.1:g.144657570_144657571delinsCA GRCh37
NC_000008.9:g.144728713_144728714delinsCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1291+22_1291+23delinsTG MANE Select ENSP00000401508.2:n.1291+22_1291+23delinsTG
ENST00000340490.7:c.1291+22_1291+23delinsTG ENSP00000341136.3:n.1291+22_1291+23delinsTG
ENST00000426292.7:c.1291+22_1291+23delinsTG ENSP00000390949.3:n.1291+22_1291+23delinsTG
ENST00000435154.7:c.1291+22_1291+23delinsTG ENSP00000405670.3:n.1291+22_1291+23delinsTG
ENST00000449291.6:c.1291+22_1291+23delinsTG ENSP00000401508.2:n.1291+22_1291+23delinsTG
ENST00000460623.5:c.269+22_269+23delinsTG
ENST00000464332.5:n.835+22_835+23delinsTG
ENST00000498076.5:n.15_16delinsTG
NM_001286829.1:c.1291+22_1291+23delinsTG NP_001273758.1:n.1291+22_1291+23delinsTG
NM_145201.5:c.1291+22_1291+23delinsTG NP_660202.3:n.1291+22_1291+23delinsTG
XM_011517377.1:c.1291+22_1291+23delinsTG XP_011515679.1:n.1291+22_1291+23delinsTG
NM_001363145.1:c.1210+22_1210+23delinsTG NP_001350074.1:n.1210+22_1210+23delinsTG
NM_001363146.1:c.607+22_607+23delinsTG NP_001350075.1:n.607+22_607+23delinsTG
XM_017013975.2:c.1510+22_1510+23delinsTG XP_016869464.1:n.1510+22_1510+23delinsTG
XM_017013976.2:c.1510+22_1510+23delinsTG XP_016869465.1:n.1510+22_1510+23delinsTG
XM_017013977.2:c.1210+22_1210+23delinsTG XP_016869466.1:n.1210+22_1210+23delinsTG
XM_017013978.2:c.1510+22_1510+23delinsTG XP_016869467.1:n.1510+22_1510+23delinsTG
XM_017013979.2:c.607+22_607+23delinsTG XP_016869468.1:n.607+22_607+23delinsTG
XM_024447332.1:c.928+22_928+23delinsTG XP_024303100.1:n.928+22_928+23delinsTG
XM_024447333.1:c.526+22_526+23delinsTG XP_024303101.1:n.526+22_526+23delinsTG
NM_145201.6:c.1291+22_1291+23delinsTG MANE Select NP_660202.3:n.1291+22_1291+23delinsTG
NM_001286829.2:c.1291+22_1291+23delinsTG NP_001273758.1:n.1291+22_1291+23delinsTG