Canonical Allele Identifier: CA2687980815
Gene: NDUFAF6 HGNC NCBI

Linked Data

gnomAD v4: 8-95025193-TGGAGCTGCTGCGGTGAGCGAGCACGACCTTCCCTGGCGCGGCGGGAAGCGGGGTCCCGGGGTG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95025199_95025261del , CM000670.2:g.95025199_95025261del GRCh38
NC_000008.10:g.96037427_96037489del , CM000670.1:g.96037427_96037489del GRCh37
NC_000008.9:g.96106603_96106665del NCBI36
NG_016647.1:g.5207_5269del
NG_016647.2:g.134929_134991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000519804.2:c.191_197+56del
ENST00000697355.1:c.-83-6796_-83-6734del ENSP00000513277.1:n.-83-6796_-83-6734del
ENST00000697364.1:c.-83-6796_-83-6734del ENSP00000513278.1:n.-83-6796_-83-6734del
ENST00000396124.9:c.191_197+56del
ENST00000396111.6:c.-83-6796_-83-6734del ENSP00000379417.1:n.-83-6796_-83-6734del
ENST00000396113.5:c.-84+1880_-84+1942del ENSP00000379419.1:n.-84+1880_-84+1942del
ENST00000396124.8:c.191_197+56del
ENST00000454358.6:c.132_138+56del
ENST00000517976.5:c.179_185+56del
ENST00000518258.5:c.191_197+56del
ENST00000518608.5:c.132_138+56del
ENST00000519136.5:c.-255-6796_-255-6734del ENSP00000429585.1:n.-255-6796_-255-6734del
ENST00000520632.5:c.167_173+56del
ENST00000520757.1:c.132_138+56del
ENST00000522683.5:c.134_140+56del
ENST00000523337.5:c.191_197+56del
ENST00000523378.5:c.-83-6796_-83-6734del ENSP00000428034.1:n.-83-6796_-83-6734del
NM_152416.3:c.191_197+56del
XM_005250789.1:c.-90_-84+56del
XM_005250790.1:c.-262_-256+56del
XM_005250791.1:c.-390_-384+56del
XM_005250792.1:c.-394_-388+56del
XM_005250793.1:c.-463_-457+56del
XM_011516833.1:c.42-6796_42-6734del XP_011515135.1:n.42-6796_42-6734del
XM_011516834.1:c.42-6796_42-6734del XP_011515136.1:n.42-6796_42-6734del
XM_011516835.1:c.42-6796_42-6734del XP_011515137.1:n.42-6796_42-6734del
XM_011516836.1:c.42-6796_42-6734del XP_011515138.1:n.42-6796_42-6734del
XM_011516837.1:c.42-6796_42-6734del XP_011515139.1:n.42-6796_42-6734del
XM_011516838.1:c.42-6796_42-6734del XP_011515140.1:n.42-6796_42-6734del
XM_011516839.1:c.42-6796_42-6734del XP_011515141.1:n.42-6796_42-6734del
XM_011516840.1:c.42-6796_42-6734del XP_011515142.1:n.42-6796_42-6734del
XM_011516841.1:c.42-6796_42-6734del XP_011515143.1:n.42-6796_42-6734del
XM_011516842.1:c.42-6796_42-6734del XP_011515144.1:n.42-6796_42-6734del
XM_011516843.1:c.-84+1880_-84+1942del XP_011515145.1:n.-84+1880_-84+1942del
NM_001330582.1:c.-90_-84+56del
NM_001354514.1:c.-83-6796_-83-6734del NP_001341443.1:n.-83-6796_-83-6734del
NM_001354515.1:c.-83-6796_-83-6734del NP_001341444.1:n.-83-6796_-83-6734del
NM_001354516.1:c.42-6796_42-6734del NP_001341445.1:n.42-6796_42-6734del
NM_001354517.1:c.-43_-37+56del
NM_001354518.1:c.-262_-256+56del
NM_001354519.1:c.-258_-252+56del
NM_001354521.1:c.-90_-84+56del
NM_001354522.1:c.-383-6796_-383-6734del NP_001341451.1:n.-383-6796_-383-6734del
NM_001354524.1:c.-456-6796_-456-6734del NP_001341453.1:n.-456-6796_-456-6734del
NM_001354525.1:c.-456-6796_-456-6734del NP_001341454.1:n.-456-6796_-456-6734del
NM_001354527.1:c.-607_-601+56del
NM_001354528.1:c.-578_-572+56del
NM_001354529.1:c.-390_-384+56del
NM_001354530.1:c.-492_-486+56del
NM_001354531.1:c.-488_-482+56del
NM_001354532.1:c.-496_-490+56del
NM_001354533.1:c.-459_-453+56del
NM_001354534.1:c.-136-6796_-136-6734del NP_001341463.1:n.-136-6796_-136-6734del
NR_148910.1:n.225_231+56del
NR_148911.1:n.225_231+56del
NR_148912.1:n.225_231+56del
NR_148913.1:n.225_231+56del
NR_148914.1:n.225_231+56del
NR_148915.1:n.225_231+56del
XM_005250792.2:c.-394_-388+56del
XM_005250793.3:c.-463_-457+56del
XM_011516833.2:c.42-6796_42-6734del XP_011515135.1:n.42-6796_42-6734del
XM_011516834.2:c.42-6796_42-6734del XP_011515136.1:n.42-6796_42-6734del
XM_011516835.2:c.42-6796_42-6734del XP_011515137.1:n.42-6796_42-6734del
XM_011516836.2:c.42-6796_42-6734del XP_011515138.1:n.42-6796_42-6734del
XM_011516837.2:c.42-6796_42-6734del XP_011515139.1:n.42-6796_42-6734del
XM_011516838.2:c.42-6796_42-6734del XP_011515140.1:n.42-6796_42-6734del
XM_011516839.2:c.42-6796_42-6734del XP_011515141.1:n.42-6796_42-6734del
XM_011516840.2:c.42-6796_42-6734del XP_011515142.1:n.42-6796_42-6734del
XM_011516841.2:c.42-6796_42-6734del XP_011515143.1:n.42-6796_42-6734del
XM_011516842.2:c.42-6796_42-6734del XP_011515144.1:n.42-6796_42-6734del
XM_017013027.2:c.42-6796_42-6734del XP_016868516.1:n.42-6796_42-6734del
XM_017013028.1:c.42-6796_42-6734del XP_016868517.1:n.42-6796_42-6734del
XM_017013029.1:c.42-6796_42-6734del XP_016868518.1:n.42-6796_42-6734del
XM_017013033.2:c.-84+1880_-84+1942del XP_016868522.1:n.-84+1880_-84+1942del
XM_024447062.1:c.-136-6796_-136-6734del XP_024302830.1:n.-136-6796_-136-6734del
NM_152416.4:c.191_197+56del
NR_148913.2:n.211_217+56del
NR_148914.2:n.211_217+56del
NM_001330582.2:c.-90_-84+56del
NM_001354514.2:c.-83-6796_-83-6734del NP_001341443.1:n.-83-6796_-83-6734del
NM_001354515.2:c.-83-6796_-83-6734del NP_001341444.1:n.-83-6796_-83-6734del
NM_001354516.2:c.42-6796_42-6734del NP_001341445.1:n.42-6796_42-6734del
NM_001354517.2:c.-43_-37+56del
NM_001354518.2:c.-262_-256+56del
NM_001354519.2:c.-258_-252+56del
NM_001354521.2:c.-90_-84+56del
NM_001354522.2:c.-383-6796_-383-6734del NP_001341451.1:n.-383-6796_-383-6734del
NM_001354524.2:c.-456-6796_-456-6734del NP_001341453.1:n.-456-6796_-456-6734del
NM_001354525.2:c.-456-6796_-456-6734del NP_001341454.1:n.-456-6796_-456-6734del
NM_001354527.2:c.-607_-601+56del
NM_001354528.2:c.-578_-572+56del
NM_001354529.2:c.-390_-384+56del
NM_001354530.2:c.-492_-486+56del
NM_001354531.2:c.-488_-482+56del
NM_001354532.2:c.-496_-490+56del
NM_001354533.2:c.-459_-453+56del
NM_001354534.2:c.-136-6796_-136-6734del NP_001341463.1:n.-136-6796_-136-6734del
NR_148910.2:n.211_217+56del
NR_148911.2:n.211_217+56del
NR_148912.2:n.211_217+56del
NR_148915.2:n.211_217+56del
Search 100 bp 5'
Search 100 bp 3'