Canonical Allele Identifier: CA2782557012

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574968_143574969del , CM000670.2:g.143574968_143574969del	GRCh38
NC_000008.10:g.144657138_144657139del , CM000670.1:g.144657138_144657139del	GRCh37
NC_000008.9:g.144728281_144728282del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+18_1554+19del MANE Select	ENSP00000401508.2:n.1554+18_1554+19del
ENST00000340490.7:c.1572_1573del	ENSP00000341136.3:p.Leu525ValfsTer?
ENST00000426292.7:c.1515+18_1515+19del	ENSP00000390949.3:n.1515+18_1515+19del
ENST00000435154.7:c.*196_*197del	ENSP00000405670.3:n.*196_*197del
ENST00000449291.6:c.1554+18_1554+19del	ENSP00000401508.2:n.1554+18_1554+19del
ENST00000460623.5:c.511_512del
ENST00000464332.5:n.1098+18_1098+19del
ENST00000498076.5:n.333+18_333+19del
ENST00000529179.1:n.338+18_338+19del
NM_001286829.1:c.1515+18_1515+19del	NP_001273758.1:n.1515+18_1515+19del
NM_145201.5:c.1554+18_1554+19del	NP_660202.3:n.1554+18_1554+19del
XM_011517377.1:c.1292-68_1292-67del	XP_011515679.1:n.1292-68_1292-67del
NM_001363145.1:c.1473+18_1473+19del	NP_001350074.1:n.1473+18_1473+19del
NM_001363146.1:c.870+18_870+19del	NP_001350075.1:n.870+18_870+19del
XM_017013975.2:c.1791_1792del	XP_016869464.1:p.Leu598ValfsTer?
XM_017013976.2:c.1773+18_1773+19del	XP_016869465.1:n.1773+18_1773+19del
XM_017013977.2:c.1491_1492del	XP_016869466.1:p.Leu498ValfsTer?
XM_017013978.2:c.1511-68_1511-67del	XP_016869467.1:n.1511-68_1511-67del
XM_017013979.2:c.888_889del	XP_016869468.1:p.Leu297ValfsTer?
XM_024447332.1:c.929-68_929-67del	XP_024303100.1:n.929-68_929-67del
XM_024447333.1:c.807_808del	XP_024303101.1:p.Leu270ValfsTer?
NM_145201.6:c.1554+18_1554+19del MANE Select	NP_660202.3:n.1554+18_1554+19del
NM_001286829.2:c.1515+18_1515+19del	NP_001273758.1:n.1515+18_1515+19del