Canonical Allele Identifier: CA5978006

Gene: NDUFS3

Linked Data

• dbSNP Id: rs775191064
• ExAC: 11:47603784 TGGACCTGCCTCTGG / T
• gnomAD v2: 11-47603784-TGGACCTGCCTCTGG-T
• gnomAD v3: 11-47582232-TGGACCTGCCTCTGG-T
• gnomAD v4: 11-47582232-TGGACCTGCCTCTGG-T
• MyVariant Identifiers: chr11:g.47603785_47603798del (hg19) ; chr11:g.47582233_47582246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582234_47582247del , CM000673.2:g.47582234_47582247del	GRCh38
NC_000011.9:g.47603786_47603799del , CM000673.1:g.47603786_47603799del	GRCh37
NC_000011.8:g.47560362_47560375del	NCBI36
NG_011946.1:g.8225_8238del
NG_011946.2:g.8225_8238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.507+21_507+34del MANE Select	ENSP00000263774.4:n.507+21_507+34del
ENST00000531351.2:n.1588_1601del
ENST00000677462.1:n.2981+21_2981+34del
ENST00000678975.1:n.2764+21_2764+34del
ENST00000263774.8:c.507+21_507+34del	ENSP00000263774.4:n.507+21_507+34del
ENST00000524568.1:n.610+21_610+34del
ENST00000525212.1:n.162+21_162+34del
ENST00000525378.5:n.445+21_445+34del
ENST00000533507.5:n.1401+21_1401+34del
NM_004551.2:c.507+21_507+34del	NP_004542.1:n.507+21_507+34del
NM_004551.3:c.507+21_507+34del MANE Select	NP_004542.1:n.507+21_507+34del