Canonical Allele Identifier: CA585729325

Gene: NAPRT

Linked Data

• dbSNP Id: rs1563928510
• gnomAD v2: 8-144657024-GCA-G
• gnomAD v3: 8-143574854-GCA-G
• gnomAD v4: 8-143574854-GCA-G
• MyVariant Identifiers: chr8:g.144657025_144657026del (hg19) ; chr8:g.143574855_143574856del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574859_143574860del , CM000670.2:g.143574859_143574860del	GRCh38
NC_000008.10:g.144657029_144657030del , CM000670.1:g.144657029_144657030del	GRCh37
NC_000008.9:g.144728172_144728173del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1599_1600del MANE Select	ENSP00000401508.2:p.Ala534GlyfsTer?
ENST00000340490.7:c.1684_1685del	ENSP00000341136.3:p.Cys562ArgfsTer?
ENST00000426292.7:c.1560_1561del	ENSP00000390949.3:p.Ala521GlyfsTer?
ENST00000435154.7:c.*308_*309del	ENSP00000405670.3:n.*308_*309del
ENST00000449291.6:c.1599_1600del	ENSP00000401508.2:p.Ala534GlyfsTer?
ENST00000460623.5:c.623_624del
ENST00000464332.5:n.1143_1144del
ENST00000498076.5:n.378_379del
ENST00000529179.1:n.383_384del
NM_001286829.1:c.1560_1561del	NP_001273758.1:p.Ala521GlyfsTer?
NM_145201.5:c.1599_1600del	NP_660202.3:p.Ala534GlyfsTer?
XM_011517377.1:c.1336_1337del	XP_011515679.1:p.Cys446ArgfsTer?
NM_001363145.1:c.1518_1519del	NP_001350074.1:p.Ala507GlyfsTer?
NM_001363146.1:c.915_916del	NP_001350075.1:p.Ala306GlyfsTer?
XM_017013975.2:c.1903_1904del	XP_016869464.1:p.Cys635ArgfsTer?
XM_017013976.2:c.1818_1819del	XP_016869465.1:p.Ala607GlyfsTer?
XM_017013977.2:c.1603_1604del	XP_016869466.1:p.Cys535ArgfsTer?
XM_017013978.2:c.1555_1556del	XP_016869467.1:p.Cys519ArgfsTer?
XM_017013979.2:c.1000_1001del	XP_016869468.1:p.Cys334ArgfsTer?
XM_024447332.1:c.973_974del	XP_024303100.1:p.Cys325ArgfsTer?
XM_024447333.1:c.919_920del	XP_024303101.1:p.Cys307ArgfsTer?
NM_145201.6:c.1599_1600del MANE Select	NP_660202.3:p.Ala534GlyfsTer?
NM_001286829.2:c.1560_1561del	NP_001273758.1:p.Ala521GlyfsTer?