Canonical Allele Identifier: CA2688943721

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575341-AGACCCTGTGTGGACGGGGCAAGAATAAGCGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575343_143575375del , CM000670.2:g.143575343_143575375del	GRCh38
NC_000008.10:g.144657513_144657545del , CM000670.1:g.144657513_144657545del	GRCh37
NC_000008.9:g.144728656_144728688del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1292-29_1295del
ENST00000340490.7:c.1292-29_1295del
ENST00000426292.7:c.1292-29_1295del
ENST00000435154.7:c.1292-29_1295del
ENST00000449291.6:c.1292-29_1295del
ENST00000460623.5:c.270-29_273del
ENST00000464332.5:n.836-29_839del
ENST00000498076.5:n.42_74del
NM_001286829.1:c.1292-29_1295del
NM_145201.5:c.1292-29_1295del
XM_011517377.1:c.1291+49_1291+81del	XP_011515679.1:n.1291+49_1291+81del
NM_001363145.1:c.1211-29_1214del
NM_001363146.1:c.608-29_611del
XM_017013975.2:c.1511-29_1514del
XM_017013976.2:c.1511-29_1514del
XM_017013977.2:c.1211-29_1214del
XM_017013978.2:c.1510+49_1510+81del	XP_016869467.1:n.1510+49_1510+81del
XM_017013979.2:c.608-29_611del
XM_024447332.1:c.928+49_928+81del	XP_024303100.1:n.928+49_928+81del
XM_024447333.1:c.527-29_530del
NM_145201.6:c.1292-29_1295del
NM_001286829.2:c.1292-29_1295del