Canonical Allele Identifier: CA2782557013

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574971_143574977del , CM000670.2:g.143574971_143574977del	GRCh38
NC_000008.10:g.144657141_144657147del , CM000670.1:g.144657141_144657147del	GRCh37
NC_000008.9:g.144728284_144728290del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+9_1554+15del MANE Select	ENSP00000401508.2:n.1554+9_1554+15del
ENST00000340490.7:c.1563_1569del	ENSP00000341136.3:p.Arg522ProfsTer?
ENST00000426292.7:c.1515+9_1515+15del	ENSP00000390949.3:n.1515+9_1515+15del
ENST00000435154.7:c.*187_*193del	ENSP00000405670.3:n.*187_*193del
ENST00000449291.6:c.1554+9_1554+15del	ENSP00000401508.2:n.1554+9_1554+15del
ENST00000460623.5:c.502_508del
ENST00000464332.5:n.1098+9_1098+15del
ENST00000498076.5:n.333+9_333+15del
ENST00000529179.1:n.338+9_338+15del
NM_001286829.1:c.1515+9_1515+15del	NP_001273758.1:n.1515+9_1515+15del
NM_145201.5:c.1554+9_1554+15del	NP_660202.3:n.1554+9_1554+15del
XM_011517377.1:c.1292-77_1292-71del	XP_011515679.1:n.1292-77_1292-71del
NM_001363145.1:c.1473+9_1473+15del	NP_001350074.1:n.1473+9_1473+15del
NM_001363146.1:c.870+9_870+15del	NP_001350075.1:n.870+9_870+15del
XM_017013975.2:c.1782_1788del	XP_016869464.1:p.Arg595ProfsTer?
XM_017013976.2:c.1773+9_1773+15del	XP_016869465.1:n.1773+9_1773+15del
XM_017013977.2:c.1482_1488del	XP_016869466.1:p.Arg495ProfsTer?
XM_017013978.2:c.1511-77_1511-71del	XP_016869467.1:n.1511-77_1511-71del
XM_017013979.2:c.879_885del	XP_016869468.1:p.Arg294ProfsTer?
XM_024447332.1:c.929-77_929-71del	XP_024303100.1:n.929-77_929-71del
XM_024447333.1:c.798_804del	XP_024303101.1:p.Arg267ProfsTer?
NM_145201.6:c.1554+9_1554+15del MANE Select	NP_660202.3:n.1554+9_1554+15del
NM_001286829.2:c.1515+9_1515+15del	NP_001273758.1:n.1515+9_1515+15del