Allele Registry

Canonical Allele Identifier: CA324884

Gene: NDUFS3 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr11:g.47582409_47582410del

GRCh37 chr11:g.47603961_47603962del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000200329

ClinVar Variation:

214807

dbSNP:

863224107

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582409_47582410del , CM000673.2:g.47582409_47582410del	GRCh38
NC_000011.9:g.47603961_47603962del , CM000673.1:g.47603961_47603962del	GRCh37
NC_000011.8:g.47560537_47560538del	NCBI36
NG_011946.1:g.8400_8401del
NG_011946.2:g.8400_8401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.568_569del MANE Select	ENSP00000263774.4:p.Asp190LeufsTer19
ENST00000531351.2:n.1763_1764del
ENST00000677462.1:n.3042_3043del
ENST00000678975.1:n.2825_2826del
ENST00000263774.8:c.568_569del	ENSP00000263774.4:p.Asp190LeufsTer19
ENST00000524568.1:n.671_672del
ENST00000525212.1:n.223_224del
ENST00000525378.5:n.506_507del
ENST00000527178.1:n.168_169del
ENST00000533507.5:n.1462_1463del
NM_004551.2:c.568_569del	NP_004542.1:p.Asp190LeufsTer19
NM_004551.3:c.568_569del MANE Select	NP_004542.1:p.Asp190LeufsTer19

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