Canonical Allele Identifier: CA1803809226
Gene: NDUFAF6 HGNC NCBI

Linked Data

dbSNP Id: rs1827957250
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95025247_95025253del , CM000670.2:g.95025247_95025253del GRCh38
NC_000008.10:g.96037475_96037481del , CM000670.1:g.96037475_96037481del GRCh37
NC_000008.9:g.96106651_96106657del NCBI36
NG_016647.1:g.5255_5261del
NG_016647.2:g.134977_134983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000519804.2:c.197+42_197+48del ENSP00000430230.2:n.197+42_197+48del
ENST00000697355.1:c.-83-6748_-83-6742del ENSP00000513277.1:n.-83-6748_-83-6742del
ENST00000697364.1:c.-83-6748_-83-6742del ENSP00000513278.1:n.-83-6748_-83-6742del
ENST00000396124.9:c.197+42_197+48del MANE Select ENSP00000379430.4:n.197+42_197+48del
ENST00000396111.6:c.-83-6748_-83-6742del ENSP00000379417.1:n.-83-6748_-83-6742del
ENST00000396113.5:c.-84+1928_-84+1934del ENSP00000379419.1:n.-84+1928_-84+1934del
ENST00000396124.8:c.197+42_197+48del ENSP00000379430.4:n.197+42_197+48del
ENST00000454358.6:c.138+42_138+48del
ENST00000517976.5:c.185+42_185+48del ENSP00000430099.1:n.185+42_185+48del
ENST00000518258.5:c.197+42_197+48del ENSP00000428788.1:n.197+42_197+48del
ENST00000518608.5:c.138+42_138+48del
ENST00000519136.5:c.-255-6748_-255-6742del ENSP00000429585.1:n.-255-6748_-255-6742del
ENST00000520632.5:c.173+42_173+48del ENSP00000428666.1:n.173+42_173+48del
ENST00000520757.1:c.138+42_138+48del
ENST00000522683.5:c.140+42_140+48del ENSP00000430991.1:n.140+42_140+48del
ENST00000523337.5:c.197+42_197+48del ENSP00000429038.1:n.197+42_197+48del
ENST00000523378.5:c.-83-6748_-83-6742del ENSP00000428034.1:n.-83-6748_-83-6742del
NM_152416.3:c.197+42_197+48del NP_689629.2:n.197+42_197+48del
XM_005250789.1:c.-84+42_-84+48del XP_005250846.1:n.-84+42_-84+48del
XM_005250790.1:c.-256+42_-256+48del XP_005250847.1:n.-256+42_-256+48del
XM_005250791.1:c.-384+42_-384+48del XP_005250848.1:n.-384+42_-384+48del
XM_005250792.1:c.-388+42_-388+48del XP_005250849.1:n.-388+42_-388+48del
XM_005250793.1:c.-457+42_-457+48del XP_005250850.1:n.-457+42_-457+48del
XM_011516833.1:c.42-6748_42-6742del XP_011515135.1:n.42-6748_42-6742del
XM_011516834.1:c.42-6748_42-6742del XP_011515136.1:n.42-6748_42-6742del
XM_011516835.1:c.42-6748_42-6742del XP_011515137.1:n.42-6748_42-6742del
XM_011516836.1:c.42-6748_42-6742del XP_011515138.1:n.42-6748_42-6742del
XM_011516837.1:c.42-6748_42-6742del XP_011515139.1:n.42-6748_42-6742del
XM_011516838.1:c.42-6748_42-6742del XP_011515140.1:n.42-6748_42-6742del
XM_011516839.1:c.42-6748_42-6742del XP_011515141.1:n.42-6748_42-6742del
XM_011516840.1:c.42-6748_42-6742del XP_011515142.1:n.42-6748_42-6742del
XM_011516841.1:c.42-6748_42-6742del XP_011515143.1:n.42-6748_42-6742del
XM_011516842.1:c.42-6748_42-6742del XP_011515144.1:n.42-6748_42-6742del
XM_011516843.1:c.-84+1928_-84+1934del XP_011515145.1:n.-84+1928_-84+1934del
NM_001330582.1:c.-84+42_-84+48del NP_001317511.1:n.-84+42_-84+48del
NM_001354514.1:c.-83-6748_-83-6742del NP_001341443.1:n.-83-6748_-83-6742del
NM_001354515.1:c.-83-6748_-83-6742del NP_001341444.1:n.-83-6748_-83-6742del
NM_001354516.1:c.42-6748_42-6742del NP_001341445.1:n.42-6748_42-6742del
NM_001354517.1:c.-37+42_-37+48del NP_001341446.1:n.-37+42_-37+48del
NM_001354518.1:c.-256+42_-256+48del NP_001341447.1:n.-256+42_-256+48del
NM_001354519.1:c.-252+42_-252+48del NP_001341448.1:n.-252+42_-252+48del
NM_001354521.1:c.-84+42_-84+48del NP_001341450.1:n.-84+42_-84+48del
NM_001354522.1:c.-383-6748_-383-6742del NP_001341451.1:n.-383-6748_-383-6742del
NM_001354524.1:c.-456-6748_-456-6742del NP_001341453.1:n.-456-6748_-456-6742del
NM_001354525.1:c.-456-6748_-456-6742del NP_001341454.1:n.-456-6748_-456-6742del
NM_001354527.1:c.-601+42_-601+48del NP_001341456.1:n.-601+42_-601+48del
NM_001354528.1:c.-572+42_-572+48del NP_001341457.1:n.-572+42_-572+48del
NM_001354529.1:c.-384+42_-384+48del NP_001341458.1:n.-384+42_-384+48del
NM_001354530.1:c.-486+42_-486+48del NP_001341459.1:n.-486+42_-486+48del
NM_001354531.1:c.-482+42_-482+48del NP_001341460.1:n.-482+42_-482+48del
NM_001354532.1:c.-490+42_-490+48del NP_001341461.1:n.-490+42_-490+48del
NM_001354533.1:c.-453+42_-453+48del NP_001341462.1:n.-453+42_-453+48del
NM_001354534.1:c.-136-6748_-136-6742del NP_001341463.1:n.-136-6748_-136-6742del
NR_148910.1:n.231+42_231+48del
NR_148911.1:n.231+42_231+48del
NR_148912.1:n.231+42_231+48del
NR_148913.1:n.231+42_231+48del
NR_148914.1:n.231+42_231+48del
NR_148915.1:n.231+42_231+48del
XM_005250792.2:c.-388+42_-388+48del XP_005250849.1:n.-388+42_-388+48del
XM_005250793.3:c.-457+42_-457+48del XP_005250850.1:n.-457+42_-457+48del
XM_011516833.2:c.42-6748_42-6742del XP_011515135.1:n.42-6748_42-6742del
XM_011516834.2:c.42-6748_42-6742del XP_011515136.1:n.42-6748_42-6742del
XM_011516835.2:c.42-6748_42-6742del XP_011515137.1:n.42-6748_42-6742del
XM_011516836.2:c.42-6748_42-6742del XP_011515138.1:n.42-6748_42-6742del
XM_011516837.2:c.42-6748_42-6742del XP_011515139.1:n.42-6748_42-6742del
XM_011516838.2:c.42-6748_42-6742del XP_011515140.1:n.42-6748_42-6742del
XM_011516839.2:c.42-6748_42-6742del XP_011515141.1:n.42-6748_42-6742del
XM_011516840.2:c.42-6748_42-6742del XP_011515142.1:n.42-6748_42-6742del
XM_011516841.2:c.42-6748_42-6742del XP_011515143.1:n.42-6748_42-6742del
XM_011516842.2:c.42-6748_42-6742del XP_011515144.1:n.42-6748_42-6742del
XM_017013027.2:c.42-6748_42-6742del XP_016868516.1:n.42-6748_42-6742del
XM_017013028.1:c.42-6748_42-6742del XP_016868517.1:n.42-6748_42-6742del
XM_017013029.1:c.42-6748_42-6742del XP_016868518.1:n.42-6748_42-6742del
XM_017013033.2:c.-84+1928_-84+1934del XP_016868522.1:n.-84+1928_-84+1934del
XM_024447062.1:c.-136-6748_-136-6742del XP_024302830.1:n.-136-6748_-136-6742del
NM_152416.4:c.197+42_197+48del MANE Select NP_689629.2:n.197+42_197+48del
NR_148913.2:n.217+42_217+48del
NR_148914.2:n.217+42_217+48del
NM_001330582.2:c.-84+42_-84+48del NP_001317511.1:n.-84+42_-84+48del
NM_001354514.2:c.-83-6748_-83-6742del NP_001341443.1:n.-83-6748_-83-6742del
NM_001354515.2:c.-83-6748_-83-6742del NP_001341444.1:n.-83-6748_-83-6742del
NM_001354516.2:c.42-6748_42-6742del NP_001341445.1:n.42-6748_42-6742del
NM_001354517.2:c.-37+42_-37+48del NP_001341446.1:n.-37+42_-37+48del
NM_001354518.2:c.-256+42_-256+48del NP_001341447.1:n.-256+42_-256+48del
NM_001354519.2:c.-252+42_-252+48del NP_001341448.1:n.-252+42_-252+48del
NM_001354521.2:c.-84+42_-84+48del NP_001341450.1:n.-84+42_-84+48del
NM_001354522.2:c.-383-6748_-383-6742del NP_001341451.1:n.-383-6748_-383-6742del
NM_001354524.2:c.-456-6748_-456-6742del NP_001341453.1:n.-456-6748_-456-6742del
NM_001354525.2:c.-456-6748_-456-6742del NP_001341454.1:n.-456-6748_-456-6742del
NM_001354527.2:c.-601+42_-601+48del NP_001341456.1:n.-601+42_-601+48del
NM_001354528.2:c.-572+42_-572+48del NP_001341457.1:n.-572+42_-572+48del
NM_001354529.2:c.-384+42_-384+48del NP_001341458.1:n.-384+42_-384+48del
NM_001354530.2:c.-486+42_-486+48del NP_001341459.1:n.-486+42_-486+48del
NM_001354531.2:c.-482+42_-482+48del NP_001341460.1:n.-482+42_-482+48del
NM_001354532.2:c.-490+42_-490+48del NP_001341461.1:n.-490+42_-490+48del
NM_001354533.2:c.-453+42_-453+48del NP_001341462.1:n.-453+42_-453+48del
NM_001354534.2:c.-136-6748_-136-6742del NP_001341463.1:n.-136-6748_-136-6742del
NR_148910.2:n.217+42_217+48del
NR_148911.2:n.217+42_217+48del
NR_148912.2:n.217+42_217+48del
NR_148915.2:n.217+42_217+48del
Search 100 bp 5'
Search 100 bp 3'