Canonical Allele Identifier: CA2740991450

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574922_143574930del , CM000670.2:g.143574922_143574930del	GRCh38
NC_000008.10:g.144657092_144657100del , CM000670.1:g.144657092_144657100del	GRCh37
NC_000008.9:g.144728235_144728243del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-28_1555-20del MANE Select	ENSP00000401508.2:n.1555-28_1555-20del
ENST00000340490.7:c.1612_1620del	ENSP00000341136.3:p.His538_Ser540del
ENST00000426292.7:c.1516-28_1516-20del	ENSP00000390949.3:n.1516-28_1516-20del
ENST00000435154.7:c.*236_*244del	ENSP00000405670.3:n.*236_*244del
ENST00000449291.6:c.1555-28_1555-20del	ENSP00000401508.2:n.1555-28_1555-20del
ENST00000460623.5:c.551_559del
ENST00000464332.5:n.1099-28_1099-20del
ENST00000498076.5:n.334-28_334-20del
ENST00000529179.1:n.339-28_339-20del
NM_001286829.1:c.1516-28_1516-20del	NP_001273758.1:n.1516-28_1516-20del
NM_145201.5:c.1555-28_1555-20del	NP_660202.3:n.1555-28_1555-20del
XM_011517377.1:c.1292-28_1292-20del	XP_011515679.1:n.1292-28_1292-20del
NM_001363145.1:c.1474-28_1474-20del	NP_001350074.1:n.1474-28_1474-20del
NM_001363146.1:c.871-28_871-20del	NP_001350075.1:n.871-28_871-20del
XM_017013975.2:c.1831_1839del	XP_016869464.1:p.His611_Ser613del
XM_017013976.2:c.1774-28_1774-20del	XP_016869465.1:n.1774-28_1774-20del
XM_017013977.2:c.1531_1539del	XP_016869466.1:p.His511_Ser513del
XM_017013978.2:c.1511-28_1511-20del	XP_016869467.1:n.1511-28_1511-20del
XM_017013979.2:c.928_936del	XP_016869468.1:p.His310_Ser312del
XM_024447332.1:c.929-28_929-20del	XP_024303100.1:n.929-28_929-20del
XM_024447333.1:c.847_855del	XP_024303101.1:p.His283_Ser285del
NM_145201.6:c.1555-28_1555-20del MANE Select	NP_660202.3:n.1555-28_1555-20del
NM_001286829.2:c.1516-28_1516-20del	NP_001273758.1:n.1516-28_1516-20del