Canonical Allele Identifier: CA2579271881

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575315_143575317del , CM000670.2:g.143575315_143575317del	GRCh38
NC_000008.10:g.144657485_144657487del , CM000670.1:g.144657485_144657487del	GRCh37
NC_000008.9:g.144728628_144728630del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1322_1324del MANE Select	ENSP00000401508.2:p.Ala441del
ENST00000340490.7:c.1322_1324del	ENSP00000341136.3:p.Ala441del
ENST00000426292.7:c.1322_1324del	ENSP00000390949.3:p.Ala441del
ENST00000435154.7:c.1322_1324del	ENSP00000405670.3:p.Ala441del
ENST00000449291.6:c.1322_1324del	ENSP00000401508.2:p.Ala441del
ENST00000460623.5:c.300_302del
ENST00000464332.5:n.866_868del
ENST00000498076.5:n.101_103del
ENST00000529179.1:n.9_11del
NM_001286829.1:c.1322_1324del	NP_001273758.1:p.Ala441del
NM_145201.5:c.1322_1324del	NP_660202.3:p.Ala441del
XM_011517377.1:c.1291+108_1291+110del	XP_011515679.1:n.1291+108_1291+110del
NM_001363145.1:c.1241_1243del	NP_001350074.1:p.Ala414del
NM_001363146.1:c.638_640del	NP_001350075.1:p.Ala213del
XM_017013975.2:c.1541_1543del	XP_016869464.1:p.Ala514del
XM_017013976.2:c.1541_1543del	XP_016869465.1:p.Ala514del
XM_017013977.2:c.1241_1243del	XP_016869466.1:p.Ala414del
XM_017013978.2:c.1510+108_1510+110del	XP_016869467.1:n.1510+108_1510+110del
XM_017013979.2:c.638_640del	XP_016869468.1:p.Ala213del
XM_024447332.1:c.928+108_928+110del	XP_024303100.1:n.928+108_928+110del
XM_024447333.1:c.557_559del	XP_024303101.1:p.Ala186del
NM_145201.6:c.1322_1324del MANE Select	NP_660202.3:p.Ala441del
NM_001286829.2:c.1322_1324del	NP_001273758.1:p.Ala441del