Canonical Allele Identifier: CA10653605

Gene: NAGA WBP2NL

Linked Data

• ClinVar Variation Id: 341888
• ClinVar RCV Id: RCV000314331 ; RCV000399400
• dbSNP Id: rs10713176
• gnomAD v2: 22-42454493-GAA-G
• gnomAD v3: 22-42058489-GAA-G
• gnomAD v4: 22-42058489-GAA-G
• MyVariant Identifiers: chr22:g.42454494_42454495del (hg19) ; chr22:g.42058490_42058491del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42058499_42058500del , CM000684.2:g.42058499_42058500del	GRCh38
NC_000022.10:g.42454503_42454504del , CM000684.1:g.42454503_42454504del	GRCh37
NC_000022.9:g.40784449_40784450del	NCBI36
NG_009247.1:g.17352_17353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.*1788_*1789del (NAGA) MANE Select	ENSP00000379680.3:n.*1788_*1789del
ENST00000396398.7:c.*1788_*1789del (NAGA)	ENSP00000379680.3:n.*1788_*1789del
NM_000262.2:c.*1788_*1789del (NAGA)	NP_000253.1:n.*1788_*1789del
XM_005261615.3:c.*1788_*1789del (NAGA)	XP_005261672.1:n.*1788_*1789del
XM_005261616.3:c.*1788_*1789del (NAGA)	XP_005261673.1:n.*1788_*1789del
XR_937828.1:n.5306_5307del (WBP2NL)
XR_937829.1:n.4886_4887del (WBP2NL)
NM_001362848.1:c.*1788_*1789del (NAGA)	NP_001349777.1:n.*1788_*1789del
NM_001362850.1:c.*1788_*1789del (NAGA)	NP_001349779.1:n.*1788_*1789del
XR_937828.3:n.5549_5550del (WBP2NL)
NM_000262.3:c.*1788_*1789del (NAGA) MANE Select	NP_000253.1:n.*1788_*1789del