Canonical Allele Identifier: CA2688943438

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575127-GGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575128_143575130del , CM000670.2:g.143575128_143575130del	GRCh38
NC_000008.10:g.144657298_144657300del , CM000670.1:g.144657298_144657300del	GRCh37
NC_000008.9:g.144728441_144728443del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1447-37_1447-35del MANE Select	ENSP00000401508.2:n.1447-37_1447-35del
ENST00000340490.7:c.1447-37_1447-35del	ENSP00000341136.3:n.1447-37_1447-35del
ENST00000426292.7:c.1408-37_1408-35del	ENSP00000390949.3:n.1408-37_1408-35del
ENST00000435154.7:c.*34_*36del	ENSP00000405670.3:n.*34_*36del
ENST00000449291.6:c.1447-37_1447-35del	ENSP00000401508.2:n.1447-37_1447-35del
ENST00000460623.5:c.386-37_386-35del
ENST00000464332.5:n.991-37_991-35del
ENST00000498076.5:n.226-37_226-35del
ENST00000529179.1:n.194_196del
NM_001286829.1:c.1408-37_1408-35del	NP_001273758.1:n.1408-37_1408-35del
NM_145201.5:c.1447-37_1447-35del	NP_660202.3:n.1447-37_1447-35del
XM_011517377.1:c.1292-230_1292-228del	XP_011515679.1:n.1292-230_1292-228del
NM_001363145.1:c.1366-37_1366-35del	NP_001350074.1:n.1366-37_1366-35del
NM_001363146.1:c.763-37_763-35del	NP_001350075.1:n.763-37_763-35del
XM_017013975.2:c.1666-37_1666-35del	XP_016869464.1:n.1666-37_1666-35del
XM_017013976.2:c.1666-37_1666-35del	XP_016869465.1:n.1666-37_1666-35del
XM_017013977.2:c.1366-37_1366-35del	XP_016869466.1:n.1366-37_1366-35del
XM_017013978.2:c.1511-230_1511-228del	XP_016869467.1:n.1511-230_1511-228del
XM_017013979.2:c.763-37_763-35del	XP_016869468.1:n.763-37_763-35del
XM_024447332.1:c.929-230_929-228del	XP_024303100.1:n.929-230_929-228del
XM_024447333.1:c.682-37_682-35del	XP_024303101.1:n.682-37_682-35del
NM_145201.6:c.1447-37_1447-35del MANE Select	NP_660202.3:n.1447-37_1447-35del
NM_001286829.2:c.1408-37_1408-35del	NP_001273758.1:n.1408-37_1408-35del