Canonical Allele Identifier: CA4912704

Gene: NAPRT

Linked Data

• dbSNP Id: rs750305065
• ExAC: 8:144657596 CA / C
• gnomAD v2: 8-144657596-CA-C
• gnomAD v4: 8-143575426-CA-C
• MyVariant Identifiers: chr8:g.144657597del (hg19) ; chr8:g.143575427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575427del , CM000670.2:g.143575427del	GRCh38
NC_000008.10:g.144657597del , CM000670.1:g.144657597del	GRCh37
NC_000008.9:g.144728740del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1287del MANE Select	ENSP00000401508.2:p.Asp430ThrfsTer11
ENST00000340490.7:c.1287del	ENSP00000341136.3:p.Asp430ThrfsTer11
ENST00000426292.7:c.1287del	ENSP00000390949.3:p.Asp430ThrfsTer11
ENST00000435154.7:c.1287del	ENSP00000405670.3:p.Asp430ThrfsTer11
ENST00000449291.6:c.1287del	ENSP00000401508.2:p.Asp430ThrfsTer11
ENST00000460623.5:c.265del
ENST00000464332.5:n.831del
NM_001286829.1:c.1287del	NP_001273758.1:p.Asp430ThrfsTer11
NM_145201.5:c.1287del	NP_660202.3:p.Asp430ThrfsTer11
XM_011517377.1:c.1287del	XP_011515679.1:p.Asp430ThrfsTer22
NM_001363145.1:c.1206del	NP_001350074.1:p.Asp403ThrfsTer11
NM_001363146.1:c.603del	NP_001350075.1:p.Asp202ThrfsTer11
XM_017013975.2:c.1506del	XP_016869464.1:p.Asp503ThrfsTer11
XM_017013976.2:c.1506del	XP_016869465.1:p.Asp503ThrfsTer11
XM_017013977.2:c.1206del	XP_016869466.1:p.Asp403ThrfsTer11
XM_017013978.2:c.1506del	XP_016869467.1:p.Asp503ThrfsTer22
XM_017013979.2:c.603del	XP_016869468.1:p.Asp202ThrfsTer11
XM_024447332.1:c.924del	XP_024303100.1:p.Asp309ThrfsTer22
XM_024447333.1:c.522del	XP_024303101.1:p.Asp175ThrfsTer11
NM_145201.6:c.1287del MANE Select	NP_660202.3:p.Asp430ThrfsTer11
NM_001286829.2:c.1287del	NP_001273758.1:p.Asp430ThrfsTer11