Canonical Allele Identifier: CA585728848

Gene: NAPRT

Linked Data

• dbSNP Id: rs1179635537
• gnomAD v2: 8-144657570-CA-C
• gnomAD v4: 8-143575400-CA-C
• MyVariant Identifiers: chr8:g.144657571del (hg19) ; chr8:g.143575401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575401del , CM000670.2:g.143575401del	GRCh38
NC_000008.10:g.144657571del , CM000670.1:g.144657571del	GRCh37
NC_000008.9:g.144728714del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1291+22del MANE Select	ENSP00000401508.2:n.1291+22del
ENST00000340490.7:c.1291+22del	ENSP00000341136.3:n.1291+22del
ENST00000426292.7:c.1291+22del	ENSP00000390949.3:n.1291+22del
ENST00000435154.7:c.1291+22del	ENSP00000405670.3:n.1291+22del
ENST00000449291.6:c.1291+22del	ENSP00000401508.2:n.1291+22del
ENST00000460623.5:c.269+22del
ENST00000464332.5:n.835+22del
ENST00000498076.5:n.15del
NM_001286829.1:c.1291+22del	NP_001273758.1:n.1291+22del
NM_145201.5:c.1291+22del	NP_660202.3:n.1291+22del
XM_011517377.1:c.1291+22del	XP_011515679.1:n.1291+22del
NM_001363145.1:c.1210+22del	NP_001350074.1:n.1210+22del
NM_001363146.1:c.607+22del	NP_001350075.1:n.607+22del
XM_017013975.2:c.1510+22del	XP_016869464.1:n.1510+22del
XM_017013976.2:c.1510+22del	XP_016869465.1:n.1510+22del
XM_017013977.2:c.1210+22del	XP_016869466.1:n.1210+22del
XM_017013978.2:c.1510+22del	XP_016869467.1:n.1510+22del
XM_017013979.2:c.607+22del	XP_016869468.1:n.607+22del
XM_024447332.1:c.928+22del	XP_024303100.1:n.928+22del
XM_024447333.1:c.526+22del	XP_024303101.1:n.526+22del
NM_145201.6:c.1291+22del MANE Select	NP_660202.3:n.1291+22del
NM_001286829.2:c.1291+22del	NP_001273758.1:n.1291+22del