Canonical Allele Identifier: CA187547363

Gene: NAPRT

Linked Data

• dbSNP Id: rs879023271
• MyVariant Identifiers: chr8:g.144657421del (hg19) ; chr8:g.143575251del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575253del , CM000670.2:g.143575253del	GRCh38
NC_000008.10:g.144657423del , CM000670.1:g.144657423del	GRCh37
NC_000008.9:g.144728566del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1386del MANE Select	ENSP00000401508.2:p.Cys463AlafsTer3
ENST00000340490.7:c.1386del	ENSP00000341136.3:p.Cys463AlafsTer3
ENST00000426292.7:c.1386del	ENSP00000390949.3:p.Cys463AlafsTer3
ENST00000435154.7:c.1386del	ENSP00000405670.3:p.Cys463AlafsTer3
ENST00000449291.6:c.1386del	ENSP00000401508.2:p.Cys463AlafsTer3
ENST00000460623.5:c.364del
ENST00000464332.5:n.930del
ENST00000498076.5:n.165del
ENST00000529179.1:n.73del
NM_001286829.1:c.1386del	NP_001273758.1:p.Cys463AlafsTer3
NM_145201.5:c.1386del	NP_660202.3:p.Cys463AlafsTer3
XM_011517377.1:c.1291+172del	XP_011515679.1:n.1291+172del
NM_001363145.1:c.1305del	NP_001350074.1:p.Cys436AlafsTer3
NM_001363146.1:c.702del	NP_001350075.1:p.Cys235AlafsTer3
XM_017013975.2:c.1605del	XP_016869464.1:p.Cys536AlafsTer3
XM_017013976.2:c.1605del	XP_016869465.1:p.Cys536AlafsTer3
XM_017013977.2:c.1305del	XP_016869466.1:p.Cys436AlafsTer3
XM_017013978.2:c.1510+172del	XP_016869467.1:n.1510+172del
XM_017013979.2:c.702del	XP_016869468.1:p.Cys235AlafsTer3
XM_024447332.1:c.928+172del	XP_024303100.1:n.928+172del
XM_024447333.1:c.621del	XP_024303101.1:p.Cys208AlafsTer3
NM_145201.6:c.1386del MANE Select	NP_660202.3:p.Cys463AlafsTer3
NM_001286829.2:c.1386del	NP_001273758.1:p.Cys463AlafsTer3