Canonical Allele Identifier: CA2687981125
Gene: NDUFAF6 HGNC NCBI

Linked Data

gnomAD v4: 8-95032165-A-AATACT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95032165_95032166insATACT , CM000670.2:g.95032165_95032166insATACT GRCh38
NC_000008.10:g.96044393_96044394insATACT , CM000670.1:g.96044393_96044394insATACT GRCh37
NC_000008.9:g.96113569_96113570insATACT NCBI36
NG_016647.1:g.12173_12174insATACT
NG_016647.2:g.141895_141896insATACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000519804.2:c.301+67_301+68insATACT ENSP00000430230.2:n.301+67_301+68insATACT
ENST00000697355.1:c.21+67_21+68insATACT ENSP00000513277.1:n.21+67_21+68insATACT
ENST00000697364.1:c.21+67_21+68insATACT ENSP00000513278.1:n.21+67_21+68insATACT
ENST00000396124.9:c.297+71_297+72insATACT MANE Select ENSP00000379430.4:n.297+71_297+72insATACT
ENST00000396111.6:c.21+67_21+68insATACT ENSP00000379417.1:n.21+67_21+68insATACT
ENST00000396113.5:c.21+67_21+68insATACT ENSP00000379419.1:n.21+67_21+68insATACT
ENST00000396124.8:c.297+71_297+72insATACT ENSP00000379430.4:n.297+71_297+72insATACT
ENST00000454358.6:c.242+67_242+68insATACT
ENST00000517976.5:c.289+67_289+68insATACT ENSP00000430099.1:n.289+67_289+68insATACT
ENST00000518258.5:c.301+67_301+68insATACT ENSP00000428788.1:n.301+67_301+68insATACT
ENST00000518608.5:c.139-3289_139-3288insATACT
ENST00000519136.5:c.-152+67_-152+68insATACT ENSP00000429585.1:n.-152+67_-152+68insATACT
ENST00000520632.5:c.277+67_277+68insATACT ENSP00000428666.1:n.277+67_277+68insATACT
ENST00000520757.1:c.238+71_238+72insATACT
ENST00000522683.5:c.244+67_244+68insATACT ENSP00000430991.1:n.244+67_244+68insATACT
ENST00000523337.5:c.301+67_301+68insATACT ENSP00000429038.1:n.301+67_301+68insATACT
ENST00000523378.5:c.21+67_21+68insATACT ENSP00000428034.1:n.21+67_21+68insATACT
NM_152416.3:c.297+71_297+72insATACT NP_689629.2:n.297+71_297+72insATACT
XM_005250789.1:c.21+67_21+68insATACT XP_005250846.1:n.21+67_21+68insATACT
XM_005250790.1:c.-152+67_-152+68insATACT XP_005250847.1:n.-152+67_-152+68insATACT
XM_005250791.1:c.-284+71_-284+72insATACT XP_005250848.1:n.-284+71_-284+72insATACT
XM_005250792.1:c.-284+67_-284+68insATACT XP_005250849.1:n.-284+67_-284+68insATACT
XM_005250793.1:c.-353+67_-353+68insATACT XP_005250850.1:n.-353+67_-353+68insATACT
XM_011516833.1:c.141+71_141+72insATACT XP_011515135.1:n.141+71_141+72insATACT
XM_011516834.1:c.141+71_141+72insATACT XP_011515136.1:n.141+71_141+72insATACT
XM_011516835.1:c.141+71_141+72insATACT XP_011515137.1:n.141+71_141+72insATACT
XM_011516836.1:c.141+71_141+72insATACT XP_011515138.1:n.141+71_141+72insATACT
XM_011516837.1:c.141+71_141+72insATACT XP_011515139.1:n.141+71_141+72insATACT
XM_011516838.1:c.141+71_141+72insATACT XP_011515140.1:n.141+71_141+72insATACT
XM_011516839.1:c.141+71_141+72insATACT XP_011515141.1:n.141+71_141+72insATACT
XM_011516840.1:c.141+71_141+72insATACT XP_011515142.1:n.141+71_141+72insATACT
XM_011516841.1:c.141+71_141+72insATACT XP_011515143.1:n.141+71_141+72insATACT
XM_011516842.1:c.141+71_141+72insATACT XP_011515144.1:n.141+71_141+72insATACT
XM_011516843.1:c.21+67_21+68insATACT XP_011515145.1:n.21+67_21+68insATACT
XM_011516844.1:c.-152+154_-152+155insATACT XP_011515146.1:n.-152+154_-152+155insATACT
NM_001330582.1:c.21+67_21+68insATACT NP_001317511.1:n.21+67_21+68insATACT
NM_001354514.1:c.21+67_21+68insATACT NP_001341443.1:n.21+67_21+68insATACT
NM_001354515.1:c.21+67_21+68insATACT NP_001341444.1:n.21+67_21+68insATACT
NM_001354516.1:c.141+71_141+72insATACT NP_001341445.1:n.141+71_141+72insATACT
NM_001354517.1:c.-36-3289_-36-3288insATACT NP_001341446.1:n.-36-3289_-36-3288insATACT
NM_001354518.1:c.-152+67_-152+68insATACT NP_001341447.1:n.-152+67_-152+68insATACT
NM_001354519.1:c.-152+71_-152+72insATACT NP_001341448.1:n.-152+71_-152+72insATACT
NM_001354521.1:c.21+67_21+68insATACT NP_001341450.1:n.21+67_21+68insATACT
NM_001354522.1:c.-284+71_-284+72insATACT NP_001341451.1:n.-284+71_-284+72insATACT
NM_001354524.1:c.-353+67_-353+68insATACT NP_001341453.1:n.-353+67_-353+68insATACT
NM_001354525.1:c.-353+67_-353+68insATACT NP_001341454.1:n.-353+67_-353+68insATACT
NM_001354527.1:c.-497+67_-497+68insATACT NP_001341456.1:n.-497+67_-497+68insATACT
NM_001354528.1:c.-468+67_-468+68insATACT NP_001341457.1:n.-468+67_-468+68insATACT
NM_001354529.1:c.-284+71_-284+72insATACT NP_001341458.1:n.-284+71_-284+72insATACT
NM_001354530.1:c.-386+71_-386+72insATACT NP_001341459.1:n.-386+71_-386+72insATACT
NM_001354531.1:c.-382+71_-382+72insATACT NP_001341460.1:n.-382+71_-382+72insATACT
NM_001354532.1:c.-386+67_-386+68insATACT NP_001341461.1:n.-386+67_-386+68insATACT
NM_001354533.1:c.-353+71_-353+72insATACT NP_001341462.1:n.-353+71_-353+72insATACT
NM_001354534.1:c.-37+71_-37+72insATACT NP_001341463.1:n.-37+71_-37+72insATACT
NR_148910.1:n.335+67_335+68insATACT
NR_148911.1:n.331+71_331+72insATACT
NR_148912.1:n.335+67_335+68insATACT
NR_148913.1:n.331+71_331+72insATACT
NR_148914.1:n.335+67_335+68insATACT
NR_148915.1:n.331+71_331+72insATACT
XM_005250792.2:c.-284+67_-284+68insATACT XP_005250849.1:n.-284+67_-284+68insATACT
XM_005250793.3:c.-353+67_-353+68insATACT XP_005250850.1:n.-353+67_-353+68insATACT
XM_011516833.2:c.141+71_141+72insATACT XP_011515135.1:n.141+71_141+72insATACT
XM_011516834.2:c.141+71_141+72insATACT XP_011515136.1:n.141+71_141+72insATACT
XM_011516835.2:c.141+71_141+72insATACT XP_011515137.1:n.141+71_141+72insATACT
XM_011516836.2:c.141+71_141+72insATACT XP_011515138.1:n.141+71_141+72insATACT
XM_011516837.2:c.141+71_141+72insATACT XP_011515139.1:n.141+71_141+72insATACT
XM_011516838.2:c.141+71_141+72insATACT XP_011515140.1:n.141+71_141+72insATACT
XM_011516839.2:c.141+71_141+72insATACT XP_011515141.1:n.141+71_141+72insATACT
XM_011516840.2:c.141+71_141+72insATACT XP_011515142.1:n.141+71_141+72insATACT
XM_011516841.2:c.141+71_141+72insATACT XP_011515143.1:n.141+71_141+72insATACT
XM_011516842.2:c.141+71_141+72insATACT XP_011515144.1:n.141+71_141+72insATACT
XM_017013027.2:c.141+71_141+72insATACT XP_016868516.1:n.141+71_141+72insATACT
XM_017013028.1:c.141+71_141+72insATACT XP_016868517.1:n.141+71_141+72insATACT
XM_017013029.1:c.141+71_141+72insATACT XP_016868518.1:n.141+71_141+72insATACT
XM_017013033.2:c.21+67_21+68insATACT XP_016868522.1:n.21+67_21+68insATACT
XM_024447062.1:c.-37+71_-37+72insATACT XP_024302830.1:n.-37+71_-37+72insATACT
NM_152416.4:c.297+71_297+72insATACT MANE Select NP_689629.2:n.297+71_297+72insATACT
NR_148913.2:n.317+71_317+72insATACT
NR_148914.2:n.321+67_321+68insATACT
NM_001330582.2:c.21+67_21+68insATACT NP_001317511.1:n.21+67_21+68insATACT
NM_001354514.2:c.21+67_21+68insATACT NP_001341443.1:n.21+67_21+68insATACT
NM_001354515.2:c.21+67_21+68insATACT NP_001341444.1:n.21+67_21+68insATACT
NM_001354516.2:c.141+71_141+72insATACT NP_001341445.1:n.141+71_141+72insATACT
NM_001354517.2:c.-36-3289_-36-3288insATACT NP_001341446.1:n.-36-3289_-36-3288insATACT
NM_001354518.2:c.-152+67_-152+68insATACT NP_001341447.1:n.-152+67_-152+68insATACT
NM_001354519.2:c.-152+71_-152+72insATACT NP_001341448.1:n.-152+71_-152+72insATACT
NM_001354521.2:c.21+67_21+68insATACT NP_001341450.1:n.21+67_21+68insATACT
NM_001354522.2:c.-284+71_-284+72insATACT NP_001341451.1:n.-284+71_-284+72insATACT
NM_001354524.2:c.-353+67_-353+68insATACT NP_001341453.1:n.-353+67_-353+68insATACT
NM_001354525.2:c.-353+67_-353+68insATACT NP_001341454.1:n.-353+67_-353+68insATACT
NM_001354527.2:c.-497+67_-497+68insATACT NP_001341456.1:n.-497+67_-497+68insATACT
NM_001354528.2:c.-468+67_-468+68insATACT NP_001341457.1:n.-468+67_-468+68insATACT
NM_001354529.2:c.-284+71_-284+72insATACT NP_001341458.1:n.-284+71_-284+72insATACT
NM_001354530.2:c.-386+71_-386+72insATACT NP_001341459.1:n.-386+71_-386+72insATACT
NM_001354531.2:c.-382+71_-382+72insATACT NP_001341460.1:n.-382+71_-382+72insATACT
NM_001354532.2:c.-386+67_-386+68insATACT NP_001341461.1:n.-386+67_-386+68insATACT
NM_001354533.2:c.-353+71_-353+72insATACT NP_001341462.1:n.-353+71_-353+72insATACT
NM_001354534.2:c.-37+71_-37+72insATACT NP_001341463.1:n.-37+71_-37+72insATACT
NR_148910.2:n.321+67_321+68insATACT
NR_148911.2:n.317+71_317+72insATACT
NR_148912.2:n.321+67_321+68insATACT
NR_148915.2:n.317+71_317+72insATACT
Search 100 bp 5'
Search 100 bp 3'