Canonical Allele Identifier: CA857150027

Gene: NDUFAF6

Linked Data

• dbSNP Id: rs1479715006
• gnomAD v3: 8-95045485-CCTTTT-C
• gnomAD v4: 8-95045485-CCTTTT-C
• MyVariant Identifiers: chr8:g.96057714_96057718del (hg19) ; chr8:g.95045486_95045490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95045490_95045494del , CM000670.2:g.95045490_95045494del	GRCh38
NC_000008.10:g.96057718_96057722del , CM000670.1:g.96057718_96057722del	GRCh37
NC_000008.9:g.96126894_96126898del	NCBI36
NG_016647.1:g.25498_25502del
NG_016647.2:g.155220_155224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519804.2:c.*272-55_*272-51del	ENSP00000430230.2:n.*272-55_*272-51del
ENST00000697355.1:c.*248-55_*248-51del	ENSP00000513277.1:n.*248-55_*248-51del
ENST00000697364.1:c.202-55_202-51del	ENSP00000513278.1:n.202-55_202-51del
ENST00000396124.9:c.478-55_478-51del MANE Select	ENSP00000379430.4:n.478-55_478-51del
ENST00000396111.6:c.202-55_202-51del	ENSP00000379417.1:n.202-55_202-51del
ENST00000396113.5:c.202-55_202-51del	ENSP00000379419.1:n.202-55_202-51del
ENST00000396124.8:c.478-55_478-51del	ENSP00000379430.4:n.478-55_478-51del
ENST00000454358.6:c.423-55_423-51del
ENST00000517976.5:c.663-55_663-51del	ENSP00000430099.1:n.663-55_663-51del
ENST00000518258.5:c.*453-55_*453-51del	ENSP00000428788.1:n.*453-55_*453-51del
ENST00000518608.5:c.438-55_438-51del
ENST00000519136.5:c.145-55_145-51del	ENSP00000429585.1:n.145-55_145-51del
ENST00000519804.1:c.145-55_145-51del	ENSP00000430230.1:n.145-55_145-51del
ENST00000520632.5:c.701-55_701-51del	ENSP00000428666.1:n.701-55_701-51del
ENST00000520757.1:c.543-55_543-51del
ENST00000523337.5:c.*231-55_*231-51del	ENSP00000429038.1:n.*231-55_*231-51del
ENST00000523378.5:c.202-55_202-51del	ENSP00000428034.1:n.202-55_202-51del
NM_152416.3:c.478-55_478-51del	NP_689629.2:n.478-55_478-51del
XM_005250789.1:c.202-55_202-51del	XP_005250846.1:n.202-55_202-51del
XM_005250790.1:c.145-55_145-51del	XP_005250847.1:n.145-55_145-51del
XM_005250791.1:c.22-55_22-51del	XP_005250848.1:n.22-55_22-51del
XM_005250792.1:c.22-55_22-51del	XP_005250849.1:n.22-55_22-51del
XM_005250793.1:c.22-55_22-51del	XP_005250850.1:n.22-55_22-51del
XM_011516833.1:c.322-55_322-51del	XP_011515135.1:n.322-55_322-51del
XM_011516834.1:c.322-55_322-51del	XP_011515136.1:n.322-55_322-51del
XM_011516835.1:c.322-55_322-51del	XP_011515137.1:n.322-55_322-51del
XM_011516836.1:c.322-55_322-51del	XP_011515138.1:n.322-55_322-51del
XM_011516837.1:c.322-55_322-51del	XP_011515139.1:n.322-55_322-51del
XM_011516838.1:c.322-55_322-51del	XP_011515140.1:n.322-55_322-51del
XM_011516839.1:c.322-55_322-51del	XP_011515141.1:n.322-55_322-51del
XM_011516840.1:c.322-55_322-51del	XP_011515142.1:n.322-55_322-51del
XM_011516841.1:c.322-55_322-51del	XP_011515143.1:n.322-55_322-51del
XM_011516842.1:c.322-55_322-51del	XP_011515144.1:n.322-55_322-51del
XM_011516843.1:c.202-55_202-51del	XP_011515145.1:n.202-55_202-51del
XM_011516844.1:c.145-55_145-51del	XP_011515146.1:n.145-55_145-51del
NM_001330582.1:c.202-55_202-51del	NP_001317511.1:n.202-55_202-51del
NM_001354514.1:c.202-55_202-51del	NP_001341443.1:n.202-55_202-51del
NM_001354515.1:c.202-55_202-51del	NP_001341444.1:n.202-55_202-51del
NM_001354516.1:c.322-55_322-51del	NP_001341445.1:n.322-55_322-51del
NM_001354517.1:c.145-55_145-51del	NP_001341446.1:n.145-55_145-51del
NM_001354518.1:c.145-55_145-51del	NP_001341447.1:n.145-55_145-51del
NM_001354519.1:c.145-55_145-51del	NP_001341448.1:n.145-55_145-51del
NM_001354521.1:c.202-55_202-51del	NP_001341450.1:n.202-55_202-51del
NM_001354522.1:c.22-55_22-51del	NP_001341451.1:n.22-55_22-51del
NM_001354524.1:c.22-55_22-51del	NP_001341453.1:n.22-55_22-51del
NM_001354525.1:c.22-55_22-51del	NP_001341454.1:n.22-55_22-51del
NM_001354527.1:c.22-55_22-51del	NP_001341456.1:n.22-55_22-51del
NM_001354528.1:c.22-55_22-51del	NP_001341457.1:n.22-55_22-51del
NM_001354529.1:c.22-55_22-51del	NP_001341458.1:n.22-55_22-51del
NM_001354530.1:c.22-55_22-51del	NP_001341459.1:n.22-55_22-51del
NM_001354531.1:c.22-55_22-51del	NP_001341460.1:n.22-55_22-51del
NM_001354532.1:c.22-55_22-51del	NP_001341461.1:n.22-55_22-51del
NM_001354533.1:c.22-55_22-51del	NP_001341462.1:n.22-55_22-51del
NM_001354534.1:c.145-55_145-51del	NP_001341463.1:n.145-55_145-51del
NR_148910.1:n.631-55_631-51del
NR_148911.1:n.631-55_631-51del
NR_148912.1:n.635-55_635-51del
NR_148913.1:n.512-55_512-51del
NR_148914.1:n.709-55_709-51del
NR_148915.1:n.636-55_636-51del
XM_005250792.2:c.22-55_22-51del	XP_005250849.1:n.22-55_22-51del
XM_005250793.3:c.22-55_22-51del	XP_005250850.1:n.22-55_22-51del
XM_011516833.2:c.322-55_322-51del	XP_011515135.1:n.322-55_322-51del
XM_011516834.2:c.322-55_322-51del	XP_011515136.1:n.322-55_322-51del
XM_011516835.2:c.322-55_322-51del	XP_011515137.1:n.322-55_322-51del
XM_011516836.2:c.322-55_322-51del	XP_011515138.1:n.322-55_322-51del
XM_011516837.2:c.322-55_322-51del	XP_011515139.1:n.322-55_322-51del
XM_011516838.2:c.322-55_322-51del	XP_011515140.1:n.322-55_322-51del
XM_011516839.2:c.322-55_322-51del	XP_011515141.1:n.322-55_322-51del
XM_011516840.2:c.322-55_322-51del	XP_011515142.1:n.322-55_322-51del
XM_011516841.2:c.322-55_322-51del	XP_011515143.1:n.322-55_322-51del
XM_011516842.2:c.322-55_322-51del	XP_011515144.1:n.322-55_322-51del
XM_017013027.2:c.322-55_322-51del	XP_016868516.1:n.322-55_322-51del
XM_017013028.1:c.322-55_322-51del	XP_016868517.1:n.322-55_322-51del
XM_017013029.1:c.322-55_322-51del	XP_016868518.1:n.322-55_322-51del
XM_017013033.2:c.202-55_202-51del	XP_016868522.1:n.202-55_202-51del
XM_017013034.1:c.145-55_145-51del	XP_016868523.1:n.145-55_145-51del
XM_024447062.1:c.145-55_145-51del	XP_024302830.1:n.145-55_145-51del
NM_152416.4:c.478-55_478-51del MANE Select	NP_689629.2:n.478-55_478-51del
NR_148913.2:n.498-55_498-51del
NR_148914.2:n.695-55_695-51del
NM_001330582.2:c.202-55_202-51del	NP_001317511.1:n.202-55_202-51del
NM_001354514.2:c.202-55_202-51del	NP_001341443.1:n.202-55_202-51del
NM_001354515.2:c.202-55_202-51del	NP_001341444.1:n.202-55_202-51del
NM_001354516.2:c.322-55_322-51del	NP_001341445.1:n.322-55_322-51del
NM_001354517.2:c.145-55_145-51del	NP_001341446.1:n.145-55_145-51del
NM_001354518.2:c.145-55_145-51del	NP_001341447.1:n.145-55_145-51del
NM_001354519.2:c.145-55_145-51del	NP_001341448.1:n.145-55_145-51del
NM_001354521.2:c.202-55_202-51del	NP_001341450.1:n.202-55_202-51del
NM_001354522.2:c.22-55_22-51del	NP_001341451.1:n.22-55_22-51del
NM_001354524.2:c.22-55_22-51del	NP_001341453.1:n.22-55_22-51del
NM_001354525.2:c.22-55_22-51del	NP_001341454.1:n.22-55_22-51del
NM_001354527.2:c.22-55_22-51del	NP_001341456.1:n.22-55_22-51del
NM_001354528.2:c.22-55_22-51del	NP_001341457.1:n.22-55_22-51del
NM_001354529.2:c.22-55_22-51del	NP_001341458.1:n.22-55_22-51del
NM_001354530.2:c.22-55_22-51del	NP_001341459.1:n.22-55_22-51del
NM_001354531.2:c.22-55_22-51del	NP_001341460.1:n.22-55_22-51del
NM_001354532.2:c.22-55_22-51del	NP_001341461.1:n.22-55_22-51del
NM_001354533.2:c.22-55_22-51del	NP_001341462.1:n.22-55_22-51del
NM_001354534.2:c.145-55_145-51del	NP_001341463.1:n.145-55_145-51del
NR_148910.2:n.617-55_617-51del
NR_148911.2:n.617-55_617-51del
NR_148912.2:n.621-55_621-51del
NR_148915.2:n.622-55_622-51del