Canonical Allele Identifier: CA1139660662

Gene: NDUFAF6

Linked Data

• ClinVar Variation Id: 870771
• ClinVar RCV Id: RCV001090387
• dbSNP Id: rs1830643251

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95045545del , CM000670.2:g.95045545del	GRCh38
NC_000008.10:g.96057773del , CM000670.1:g.96057773del	GRCh37
NC_000008.9:g.96126949del	NCBI36
NG_016647.1:g.25553del
NG_016647.2:g.155275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519804.2:c.*272del
ENST00000697355.1:c.*248del
ENST00000697364.1:c.202del
ENST00000396124.9:c.478del
ENST00000396111.6:c.202del
ENST00000396113.5:c.202del
ENST00000396124.8:c.478del
ENST00000454358.6:c.423del
ENST00000517976.5:c.663del
ENST00000518258.5:c.*453del
ENST00000518608.5:c.438del
ENST00000519136.5:c.145del
ENST00000519804.1:c.145del
ENST00000520632.5:c.701del
ENST00000520757.1:c.543del
ENST00000523337.5:c.*231del
ENST00000523378.5:c.202del
NM_152416.3:c.478del
XM_005250789.1:c.202del
XM_005250790.1:c.145del
XM_005250791.1:c.22del
XM_005250792.1:c.22del
XM_005250793.1:c.22del
XM_011516833.1:c.322del
XM_011516834.1:c.322del
XM_011516835.1:c.322del
XM_011516836.1:c.322del
XM_011516837.1:c.322del
XM_011516838.1:c.322del
XM_011516839.1:c.322del
XM_011516840.1:c.322del
XM_011516841.1:c.322del
XM_011516842.1:c.322del
XM_011516843.1:c.202del
XM_011516844.1:c.145del
NM_001330582.1:c.202del
NM_001354514.1:c.202del
NM_001354515.1:c.202del
NM_001354516.1:c.322del
NM_001354517.1:c.145del
NM_001354518.1:c.145del
NM_001354519.1:c.145del
NM_001354521.1:c.202del
NM_001354522.1:c.22del
NM_001354524.1:c.22del
NM_001354525.1:c.22del
NM_001354527.1:c.22del
NM_001354528.1:c.22del
NM_001354529.1:c.22del
NM_001354530.1:c.22del
NM_001354531.1:c.22del
NM_001354532.1:c.22del
NM_001354533.1:c.22del
NM_001354534.1:c.145del
NR_148910.1:n.631del
NR_148911.1:n.631del
NR_148912.1:n.635del
NR_148913.1:n.512del
NR_148914.1:n.709del
NR_148915.1:n.636del
XM_005250792.2:c.22del
XM_005250793.3:c.22del
XM_011516833.2:c.322del
XM_011516834.2:c.322del
XM_011516835.2:c.322del
XM_011516836.2:c.322del
XM_011516837.2:c.322del
XM_011516838.2:c.322del
XM_011516839.2:c.322del
XM_011516840.2:c.322del
XM_011516841.2:c.322del
XM_011516842.2:c.322del
XM_017013027.2:c.322del
XM_017013028.1:c.322del
XM_017013029.1:c.322del
XM_017013033.2:c.202del
XM_017013034.1:c.145del
XM_024447062.1:c.145del
NM_152416.4:c.478del
NR_148913.2:n.498del
NR_148914.2:n.695del
NM_001330582.2:c.202del
NM_001354514.2:c.202del
NM_001354515.2:c.202del
NM_001354516.2:c.322del
NM_001354517.2:c.145del
NM_001354518.2:c.145del
NM_001354519.2:c.145del
NM_001354521.2:c.202del
NM_001354522.2:c.22del
NM_001354524.2:c.22del
NM_001354525.2:c.22del
NM_001354527.2:c.22del
NM_001354528.2:c.22del
NM_001354529.2:c.22del
NM_001354530.2:c.22del
NM_001354531.2:c.22del
NM_001354532.2:c.22del
NM_001354533.2:c.22del
NM_001354534.2:c.145del
NR_148910.2:n.617del
NR_148911.2:n.617del
NR_148912.2:n.621del
NR_148915.2:n.622del