Canonical Allele Identifier: CA585728838

Gene: NAPRT

Linked Data

• dbSNP Id: rs1396873461
• gnomAD v2: 8-144657164-GT-G
• gnomAD v4: 8-143574994-GT-G
• MyVariant Identifiers: chr8:g.144657165del (hg19) ; chr8:g.143574995del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574995del , CM000670.2:g.143574995del	GRCh38
NC_000008.10:g.144657165del , CM000670.1:g.144657165del	GRCh37
NC_000008.9:g.144728308del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1545del MANE Select	ENSP00000401508.2:p.Gln516SerfsTer14
ENST00000340490.7:c.1545del	ENSP00000341136.3:p.Gln516SerfsTer?
ENST00000426292.7:c.1506del	ENSP00000390949.3:p.Gln503SerfsTer14
ENST00000435154.7:c.*169del	ENSP00000405670.3:n.*169del
ENST00000449291.6:c.1545del	ENSP00000401508.2:p.Gln516SerfsTer14
ENST00000460623.5:c.484del
ENST00000464332.5:n.1089del
ENST00000498076.5:n.324del
ENST00000529179.1:n.329del
NM_001286829.1:c.1506del	NP_001273758.1:p.Gln503SerfsTer14
NM_145201.5:c.1545del	NP_660202.3:p.Gln516SerfsTer14
XM_011517377.1:c.1292-95del	XP_011515679.1:n.1292-95del
NM_001363145.1:c.1464del	NP_001350074.1:p.Gln489SerfsTer14
NM_001363146.1:c.861del	NP_001350075.1:p.Gln288SerfsTer14
XM_017013975.2:c.1764del	XP_016869464.1:p.Gln589SerfsTer?
XM_017013976.2:c.1764del	XP_016869465.1:p.Gln589SerfsTer14
XM_017013977.2:c.1464del	XP_016869466.1:p.Gln489SerfsTer?
XM_017013978.2:c.1511-95del	XP_016869467.1:n.1511-95del
XM_017013979.2:c.861del	XP_016869468.1:p.Gln288SerfsTer?
XM_024447332.1:c.929-95del	XP_024303100.1:n.929-95del
XM_024447333.1:c.780del	XP_024303101.1:p.Gln261SerfsTer?
NM_145201.6:c.1545del MANE Select	NP_660202.3:p.Gln516SerfsTer14
NM_001286829.2:c.1506del	NP_001273758.1:p.Gln503SerfsTer14