Canonical Allele Identifier: CA2688943454

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575132-GCTCCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575133_143575138del , CM000670.2:g.143575133_143575138del	GRCh38
NC_000008.10:g.144657303_144657308del , CM000670.1:g.144657303_144657308del	GRCh37
NC_000008.9:g.144728446_144728451del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1447-45_1447-40del MANE Select	ENSP00000401508.2:n.1447-45_1447-40del
ENST00000340490.7:c.1447-45_1447-40del	ENSP00000341136.3:n.1447-45_1447-40del
ENST00000426292.7:c.1408-45_1408-40del	ENSP00000390949.3:n.1408-45_1408-40del
ENST00000435154.7:c.*26_*31del	ENSP00000405670.3:n.*26_*31del
ENST00000449291.6:c.1447-45_1447-40del	ENSP00000401508.2:n.1447-45_1447-40del
ENST00000460623.5:c.386-45_386-40del
ENST00000464332.5:n.991-45_991-40del
ENST00000498076.5:n.226-45_226-40del
ENST00000529179.1:n.186_191del
NM_001286829.1:c.1408-45_1408-40del	NP_001273758.1:n.1408-45_1408-40del
NM_145201.5:c.1447-45_1447-40del	NP_660202.3:n.1447-45_1447-40del
XM_011517377.1:c.1292-238_1292-233del	XP_011515679.1:n.1292-238_1292-233del
NM_001363145.1:c.1366-45_1366-40del	NP_001350074.1:n.1366-45_1366-40del
NM_001363146.1:c.763-45_763-40del	NP_001350075.1:n.763-45_763-40del
XM_017013975.2:c.1666-45_1666-40del	XP_016869464.1:n.1666-45_1666-40del
XM_017013976.2:c.1666-45_1666-40del	XP_016869465.1:n.1666-45_1666-40del
XM_017013977.2:c.1366-45_1366-40del	XP_016869466.1:n.1366-45_1366-40del
XM_017013978.2:c.1511-238_1511-233del	XP_016869467.1:n.1511-238_1511-233del
XM_017013979.2:c.763-45_763-40del	XP_016869468.1:n.763-45_763-40del
XM_024447332.1:c.929-238_929-233del	XP_024303100.1:n.929-238_929-233del
XM_024447333.1:c.682-45_682-40del	XP_024303101.1:n.682-45_682-40del
NM_145201.6:c.1447-45_1447-40del MANE Select	NP_660202.3:n.1447-45_1447-40del
NM_001286829.2:c.1408-45_1408-40del	NP_001273758.1:n.1408-45_1408-40del