Canonical Allele Identifier: CA514677678

Gene: NAGA

Linked Data

• dbSNP Id: rs1190895301
• gnomAD v2: 22-42462717-T-TG
• gnomAD v4: 22-42066713-T-TG
• COSMIC: COSM6044830
• MyVariant Identifiers: chr22:g.42462717_42462718insG (hg19) ; chr22:g.42066713_42066714insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42066719dup , CM000684.2:g.42066719dup	GRCh38
NC_000022.10:g.42462723dup , CM000684.1:g.42462723dup	GRCh37
NC_000022.9:g.40792669dup	NCBI36
NG_009247.1:g.9129dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.593dup MANE Select	ENSP00000379680.3:p.Arg199LysfsTer16
ENST00000396398.7:c.593dup	ENSP00000379680.3:p.Arg199LysfsTer16
ENST00000402937.1:c.593dup	ENSP00000384603.1:p.Arg199LysfsTer16
ENST00000403363.5:c.593dup	ENSP00000385283.1:p.Arg199LysfsTer16
NM_000262.2:c.593dup	NP_000253.1:p.Arg199LysfsTer16
XM_005261615.3:c.593dup	XP_005261672.1:p.Arg199LysfsTer16
XM_005261616.3:c.593dup	XP_005261673.1:p.Arg199LysfsTer16
NM_001362848.1:c.593dup	NP_001349777.1:p.Arg199LysfsTer16
NM_001362850.1:c.593dup	NP_001349779.1:p.Arg199LysfsTer16
NM_000262.3:c.593dup MANE Select	NP_000253.1:p.Arg199LysfsTer16