Canonical Allele Identifier: CA2688943991

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575502-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575504del , CM000670.2:g.143575504del	GRCh38
NC_000008.10:g.144657674del , CM000670.1:g.144657674del	GRCh37
NC_000008.9:g.144728817del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1211del MANE Select	ENSP00000401508.2:p.Pro404HisfsTer3
ENST00000340490.7:c.1211del	ENSP00000341136.3:p.Pro404HisfsTer3
ENST00000426292.7:c.1211del	ENSP00000390949.3:p.Pro404HisfsTer3
ENST00000435154.7:c.1211del	ENSP00000405670.3:p.Pro404HisfsTer3
ENST00000449291.6:c.1211del	ENSP00000401508.2:p.Pro404HisfsTer3
ENST00000460623.5:c.189del
ENST00000464332.5:n.755del
ENST00000525583.5:c.995del
NM_001286829.1:c.1211del	NP_001273758.1:p.Pro404HisfsTer3
NM_145201.5:c.1211del	NP_660202.3:p.Pro404HisfsTer3
XM_011517377.1:c.1211del	XP_011515679.1:p.Pro404HisfsTer3
NM_001363145.1:c.1130del	NP_001350074.1:p.Pro377HisfsTer3
NM_001363146.1:c.527del	NP_001350075.1:p.Pro176HisfsTer3
XM_017013975.2:c.1430del	XP_016869464.1:p.Pro477HisfsTer3
XM_017013976.2:c.1430del	XP_016869465.1:p.Pro477HisfsTer3
XM_017013977.2:c.1130del	XP_016869466.1:p.Pro377HisfsTer3
XM_017013978.2:c.1430del	XP_016869467.1:p.Pro477HisfsTer3
XM_017013979.2:c.527del	XP_016869468.1:p.Pro176HisfsTer3
XM_024447332.1:c.848del	XP_024303100.1:p.Pro283HisfsTer3
XM_024447333.1:c.446del	XP_024303101.1:p.Pro149HisfsTer3
NM_145201.6:c.1211del MANE Select	NP_660202.3:p.Pro404HisfsTer3
NM_001286829.2:c.1211del	NP_001273758.1:p.Pro404HisfsTer3