Canonical Allele Identifier: CA639474809

Gene: NAGA

Linked Data

• dbSNP Id: rs1420828049
• gnomAD v2: 22-42462663-AGGAG-A
• gnomAD v3: 22-42066659-AGGAG-A
• gnomAD v4: 22-42066659-AGGAG-A
• MyVariant Identifiers: chr22:g.42462664_42462667del (hg19) ; chr22:g.42066660_42066663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42066661_42066664del , CM000684.2:g.42066661_42066664del	GRCh38
NC_000022.10:g.42462665_42462668del , CM000684.1:g.42462665_42462668del	GRCh37
NC_000022.9:g.40792611_40792614del	NCBI36
NG_009247.1:g.9180_9183del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396398.8:c.597+47_597+50del MANE Select	ENSP00000379680.3:n.597+47_597+50del
ENST00000396398.7:c.597+47_597+50del	ENSP00000379680.3:n.597+47_597+50del
ENST00000402937.1:c.597+47_597+50del	ENSP00000384603.1:n.597+47_597+50del
ENST00000403363.5:c.597+47_597+50del	ENSP00000385283.1:n.597+47_597+50del
NM_000262.2:c.597+47_597+50del	NP_000253.1:n.597+47_597+50del
XM_005261615.3:c.597+47_597+50del	XP_005261672.1:n.597+47_597+50del
XM_005261616.3:c.597+47_597+50del	XP_005261673.1:n.597+47_597+50del
NM_001362848.1:c.597+47_597+50del	NP_001349777.1:n.597+47_597+50del
NM_001362850.1:c.597+47_597+50del	NP_001349779.1:n.597+47_597+50del
NM_000262.3:c.597+47_597+50del MANE Select	NP_000253.1:n.597+47_597+50del