Canonical Allele Identifier: CA2406550391

Gene: NAGA

Linked Data

• dbSNP Id: rs1926752865
• gnomAD v4: 22-42066711-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42066713dup , CM000684.2:g.42066713dup	GRCh38
NC_000022.10:g.42462717dup , CM000684.1:g.42462717dup	GRCh37
NC_000022.9:g.40792663dup	NCBI36
NG_009247.1:g.9131dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.595dup MANE Select	ENSP00000379680.3:p.Arg199LysfsTer16
ENST00000396398.7:c.595dup	ENSP00000379680.3:p.Arg199LysfsTer16
ENST00000402937.1:c.595dup	ENSP00000384603.1:p.Arg199LysfsTer16
ENST00000403363.5:c.595dup	ENSP00000385283.1:p.Arg199LysfsTer16
NM_000262.2:c.595dup	NP_000253.1:p.Arg199LysfsTer16
XM_005261615.3:c.595dup	XP_005261672.1:p.Arg199LysfsTer16
XM_005261616.3:c.595dup	XP_005261673.1:p.Arg199LysfsTer16
NM_001362848.1:c.595dup	NP_001349777.1:p.Arg199LysfsTer16
NM_001362850.1:c.595dup	NP_001349779.1:p.Arg199LysfsTer16
NM_000262.3:c.595dup MANE Select	NP_000253.1:p.Arg199LysfsTer16