Canonical Allele Identifier: CA4912715

Gene: NAPRT

Linked Data

• dbSNP Id: rs756035328
• ExAC: 8:144657627 CCCAGGCAA / C
• gnomAD v2: 8-144657627-CCCAGGCAA-C
• gnomAD v3: 8-143575457-CCCAGGCAA-C
• gnomAD v4: 8-143575457-CCCAGGCAA-C
• MyVariant Identifiers: chr8:g.144657628_144657635del (hg19) ; chr8:g.143575458_143575465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575459_143575466del , CM000670.2:g.143575459_143575466del	GRCh38
NC_000008.10:g.144657629_144657636del , CM000670.1:g.144657629_144657636del	GRCh37
NC_000008.9:g.144728772_144728779del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1249_1256del MANE Select	ENSP00000401508.2:p.Leu417GlufsTer11
ENST00000340490.7:c.1249_1256del	ENSP00000341136.3:p.Leu417GlufsTer11
ENST00000426292.7:c.1249_1256del	ENSP00000390949.3:p.Leu417GlufsTer11
ENST00000435154.7:c.1249_1256del	ENSP00000405670.3:p.Leu417GlufsTer11
ENST00000449291.6:c.1249_1256del	ENSP00000401508.2:p.Leu417GlufsTer11
ENST00000460623.5:c.227_234del
ENST00000464332.5:n.793_800del
ENST00000525583.5:c.1033_1040del
NM_001286829.1:c.1249_1256del	NP_001273758.1:p.Leu417GlufsTer11
NM_145201.5:c.1249_1256del	NP_660202.3:p.Leu417GlufsTer11
XM_011517377.1:c.1249_1256del	XP_011515679.1:p.Leu417GlufsTer11
NM_001363145.1:c.1168_1175del	NP_001350074.1:p.Leu390GlufsTer11
NM_001363146.1:c.565_572del	NP_001350075.1:p.Leu189GlufsTer11
XM_017013975.2:c.1468_1475del	XP_016869464.1:p.Leu490GlufsTer11
XM_017013976.2:c.1468_1475del	XP_016869465.1:p.Leu490GlufsTer11
XM_017013977.2:c.1168_1175del	XP_016869466.1:p.Leu390GlufsTer11
XM_017013978.2:c.1468_1475del	XP_016869467.1:p.Leu490GlufsTer11
XM_017013979.2:c.565_572del	XP_016869468.1:p.Leu189GlufsTer11
XM_024447332.1:c.886_893del	XP_024303100.1:p.Leu296GlufsTer11
XM_024447333.1:c.484_491del	XP_024303101.1:p.Leu162GlufsTer11
NM_145201.6:c.1249_1256del MANE Select	NP_660202.3:p.Leu417GlufsTer11
NM_001286829.2:c.1249_1256del	NP_001273758.1:p.Leu417GlufsTer11