Canonical Allele Identifier: CA2052292
Gene: NDUFB3 HGNC NCBI

Linked Data

dbSNP Id: rs754835124
ExAC: 2:201943743 CCGGT / C
gnomAD v2: 2-201943743-CCGGT-C
gnomAD v3: 2-201079020-CCGGT-C
gnomAD v4: 2-201079020-CCGGT-C
MyVariant Identifiers: chr2:g.201943744_201943747del (hg19) chr2:g.201079021_201079024del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201079021_201079024del , CM000664.2:g.201079021_201079024del GRCh38
NC_000002.11:g.201943744_201943747del , CM000664.1:g.201943744_201943747del GRCh37
NC_000002.10:g.201651989_201651992del NCBI36
NG_032156.1:g.12283_12286del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450023.6:c.139_140+2del
ENST00000682325.1:c.139_140+2del
ENST00000684175.1:c.139_140+2del
ENST00000684420.1:c.139_140+2del
ENST00000237889.9:c.139_140+2del
ENST00000237889.8:c.139_140+2del
ENST00000433898.5:c.139_140+2del
ENST00000450023.5:c.139_140+2del
ENST00000454214.1:c.139_140+2del
NM_001257102.1:c.139_140+2del
NM_002491.2:c.139_140+2del
XM_011511230.1:c.139_140+2del
XM_011511230.3:c.139_140+2del
XM_017004186.2:c.139_140+2del
NM_002491.3:c.139_140+2del
NM_001257102.2:c.139_140+2del
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