Canonical Allele Identifier: CA585728865

Gene: NAPRT

Linked Data

• dbSNP Id: rs781136949
• gnomAD v2: 8-144657328-T-TG
• gnomAD v3: 8-143575158-T-TG
• gnomAD v4: 8-143575158-T-TG
• MyVariant Identifiers: chr8:g.144657328_144657329insG (hg19) ; chr8:g.143575158_143575159insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575163dup , CM000670.2:g.143575163dup	GRCh38
NC_000008.10:g.144657333dup , CM000670.1:g.144657333dup	GRCh37
NC_000008.9:g.144728476dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1446+32dup MANE Select	ENSP00000401508.2:n.1446+32dup
ENST00000340490.7:c.1446+32dup	ENSP00000341136.3:n.1446+32dup
ENST00000426292.7:c.1408-66dup	ENSP00000390949.3:n.1408-66dup
ENST00000435154.7:c.*5dup	ENSP00000405670.3:n.*5dup
ENST00000449291.6:c.1446+32dup	ENSP00000401508.2:n.1446+32dup
ENST00000460623.5:c.386-66dup
ENST00000464332.5:n.990+32dup
ENST00000498076.5:n.225+32dup
ENST00000529179.1:n.165dup
NM_001286829.1:c.1408-66dup	NP_001273758.1:n.1408-66dup
NM_145201.5:c.1446+32dup	NP_660202.3:n.1446+32dup
XM_011517377.1:c.1292-259dup	XP_011515679.1:n.1292-259dup
NM_001363145.1:c.1365+32dup	NP_001350074.1:n.1365+32dup
NM_001363146.1:c.762+32dup	NP_001350075.1:n.762+32dup
XM_017013975.2:c.1665+32dup	XP_016869464.1:n.1665+32dup
XM_017013976.2:c.1665+32dup	XP_016869465.1:n.1665+32dup
XM_017013977.2:c.1365+32dup	XP_016869466.1:n.1365+32dup
XM_017013978.2:c.1511-259dup	XP_016869467.1:n.1511-259dup
XM_017013979.2:c.762+32dup	XP_016869468.1:n.762+32dup
XM_024447332.1:c.929-259dup	XP_024303100.1:n.929-259dup
XM_024447333.1:c.681+32dup	XP_024303101.1:n.681+32dup
NM_145201.6:c.1446+32dup MANE Select	NP_660202.3:n.1446+32dup
NM_001286829.2:c.1408-66dup	NP_001273758.1:n.1408-66dup