Canonical Allele Identifier: CA2573156378
Gene: COQ8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40705151_40705152delinsCA , CM000681.2:g.40705151_40705152delinsCA GRCh38
NC_000019.9:g.41211056_41211057delinsCA , CM000681.1:g.41211056_41211057delinsCA GRCh37
NC_000019.8:g.45902896_45902897delinsCA NCBI36
NG_027800.1:g.16734_16735delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000324464.8:c.520_521delinsTG MANE Select ENSP00000315118.3:p.His174Cys
ENST00000593724.2:n.393-1530_393-1529delinsTG
ENST00000594490.6:c.442_443delinsTG ENSP00000471310.2:p.His148Cys
ENST00000594720.6:c.520_521delinsTG ENSP00000470876.2:p.His174Cys
ENST00000596455.6:n.812_813delinsTG
ENST00000601967.6:c.520_521delinsTG ENSP00000470916.2:p.His174Cys
ENST00000676555.1:c.520_521delinsTG ENSP00000503387.1:p.His174Cys
ENST00000676578.1:c.*262_*263delinsTG ENSP00000504076.1:n.*262_*263delinsTG
ENST00000676960.1:n.645_646delinsTG
ENST00000676962.1:n.799_800delinsTG
ENST00000677018.1:c.520_521delinsTG ENSP00000503480.1:p.His174Cys
ENST00000677039.1:n.575_576delinsTG
ENST00000677399.1:n.962_963delinsTG
ENST00000677496.1:c.193_194delinsTG ENSP00000504773.1:p.His65Cys
ENST00000677517.1:c.193_194delinsTG ENSP00000503519.1:p.His65Cys
ENST00000677633.1:c.513_514delinsTG ENSP00000503645.1:p.Thr172Ala
ENST00000677800.1:c.*3624_*3625delinsTG ENSP00000503794.1:n.*3624_*3625delinsTG
ENST00000678057.1:c.*84_*85delinsTG ENSP00000503762.1:n.*84_*85delinsTG
ENST00000678119.1:n.714_715delinsTG
ENST00000678166.1:n.804_805delinsTG
ENST00000678312.1:n.857_858delinsTG
ENST00000678316.1:c.495_496delinsTG ENSP00000504112.1:p.Thr166Ala
ENST00000678371.1:n.878_879delinsTG
ENST00000678404.1:c.520_521delinsTG ENSP00000503944.1:p.His174Cys
ENST00000678419.1:c.520_521delinsTG ENSP00000504085.1:p.His174Cys
ENST00000678433.1:n.880_881delinsTG
ENST00000678467.1:c.520_521delinsTG ENSP00000504072.1:p.His174Cys
ENST00000678569.1:c.520_521delinsTG ENSP00000504261.1:p.His174Cys
ENST00000678961.1:n.703_704delinsTG
ENST00000679002.1:n.699_700delinsTG
ENST00000679012.1:c.76_77delinsTG ENSP00000504446.1:p.His26Cys
ENST00000679070.1:c.186_187delinsTG ENSP00000503759.1:p.Thr63Ala
ENST00000679130.1:c.520_521delinsTG ENSP00000504845.1:p.His174Cys
ENST00000679315.1:c.*350_*351delinsTG ENSP00000503065.1:n.*350_*351delinsTG
ENST00000243583.10:c.397_398delinsTG ENSP00000243583.5:p.His133Cys
ENST00000324464.7:c.520_521delinsTG ENSP00000315118.3:p.His174Cys
ENST00000595254.5:c.193_194delinsTG ENSP00000470894.1:p.His65Cys
ENST00000596455.5:n.640_641delinsTG
ENST00000599643.5:c.279_280delinsTG ENSP00000471192.1:p.Thr94Ala
ENST00000600080.5:c.186_187delinsTG ENSP00000473017.1:p.Thr63Ala
ENST00000601304.5:c.*294_*295delinsTG ENSP00000472519.1:n.*294_*295delinsTG
ENST00000601451.5:n.965_966delinsTG
ENST00000601967.5:c.520_521delinsTG ENSP00000470916.1:p.His174Cys
NM_001142555.2:c.397_398delinsTG NP_001136027.1:p.His133Cys
NM_024876.3:c.520_521delinsTG NP_079152.3:p.His174Cys
XM_005259270.3:c.682_683delinsTG XP_005259327.2:p.His228Cys
XM_005259271.3:c.520_521delinsTG XP_005259328.1:p.His174Cys
XM_005259272.3:c.520_521delinsTG XP_005259329.1:p.His174Cys
XM_005259273.3:c.520_521delinsTG XP_005259330.1:p.His174Cys
XM_006723392.2:c.520_521delinsTG XP_006723455.1:p.His174Cys
XM_006723393.2:c.520_521delinsTG XP_006723456.1:p.His174Cys
XM_011527334.1:c.520_521delinsTG XP_011525636.1:p.His174Cys
XM_011527335.1:c.520_521delinsTG XP_011525637.1:p.His174Cys
XM_011527336.1:c.550_551delinsTG XP_011525638.1:p.His184Cys
XM_011527337.1:c.520_521delinsTG XP_011525639.1:p.His174Cys
XM_011527338.1:c.520_521delinsTG XP_011525640.1:p.His174Cys
NM_024876.4:c.520_521delinsTG MANE Select NP_079152.3:p.His174Cys
NM_001142555.3:c.397_398delinsTG NP_001136027.1:p.His133Cys