Canonical Allele Identifier: CA2585171872

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40691804-CCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40691807_40691810del , CM000681.2:g.40691807_40691810del	GRCh38
NC_000019.9:g.41197712_41197715del , CM000681.1:g.41197712_41197715del	GRCh37
NC_000019.8:g.45889552_45889555del	NCBI36
NG_027800.1:g.30078_30081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.*227_*230del MANE Select	ENSP00000315118.3:n.*227_*230del
ENST00000593724.2:n.3685_3688del
ENST00000594490.6:c.*227_*230del	ENSP00000471310.2:n.*227_*230del
ENST00000594720.6:c.*227_*230del	ENSP00000470876.2:n.*227_*230del
ENST00000596455.6:n.2154_2157del
ENST00000601967.6:c.*227_*230del	ENSP00000470916.2:n.*227_*230del
ENST00000676555.1:c.*1287_*1290del	ENSP00000503387.1:n.*1287_*1290del
ENST00000676578.1:c.*1604_*1607del	ENSP00000504076.1:n.*1604_*1607del
ENST00000676960.1:n.1987_1990del
ENST00000676962.1:n.2141_2144del
ENST00000677018.1:c.*227_*230del	ENSP00000503480.1:n.*227_*230del
ENST00000677039.1:n.4065_4068del
ENST00000677399.1:n.2304_2307del
ENST00000677496.1:c.*227_*230del	ENSP00000504773.1:n.*227_*230del
ENST00000677517.1:c.*227_*230del	ENSP00000503519.1:n.*227_*230del
ENST00000677633.1:c.*1285_*1288del	ENSP00000503645.1:n.*1285_*1288del
ENST00000677800.1:c.*4966_*4969del	ENSP00000503794.1:n.*4966_*4969del
ENST00000678057.1:c.*1426_*1429del	ENSP00000503762.1:n.*1426_*1429del
ENST00000678119.1:n.2056_2059del
ENST00000678166.1:n.2005_2008del
ENST00000678312.1:n.2199_2202del
ENST00000678316.1:c.*1285_*1288del	ENSP00000504112.1:n.*1285_*1288del
ENST00000678371.1:n.2312_2315del
ENST00000678404.1:c.*227_*230del	ENSP00000503944.1:n.*227_*230del
ENST00000678419.1:c.*227_*230del	ENSP00000504085.1:n.*227_*230del
ENST00000678433.1:n.2218_2221del
ENST00000678467.1:c.*227_*230del	ENSP00000504072.1:n.*227_*230del
ENST00000678569.1:c.*847_*850del	ENSP00000504261.1:n.*847_*850del
ENST00000678961.1:n.2217_2220del
ENST00000679002.1:n.2041_2044del
ENST00000679012.1:c.*227_*230del	ENSP00000504446.1:n.*227_*230del
ENST00000679070.1:c.*1281_*1284del	ENSP00000503759.1:n.*1281_*1284del
ENST00000679130.1:c.*227_*230del	ENSP00000504845.1:n.*227_*230del
ENST00000679315.1:c.*1692_*1695del	ENSP00000503065.1:n.*1692_*1695del
ENST00000243583.10:c.*227_*230del	ENSP00000243583.5:n.*227_*230del
ENST00000324464.7:c.*227_*230del	ENSP00000315118.3:n.*227_*230del
ENST00000593724.1:n.1977_1980del
NM_001142555.2:c.*227_*230del	NP_001136027.1:n.*227_*230del
NM_024876.3:c.*227_*230del	NP_079152.3:n.*227_*230del
XM_005259270.3:c.*227_*230del	XP_005259327.2:n.*227_*230del
XM_005259271.3:c.*227_*230del	XP_005259328.1:n.*227_*230del
XM_005259272.3:c.*227_*230del	XP_005259329.1:n.*227_*230del
XM_005259273.3:c.*227_*230del	XP_005259330.1:n.*227_*230del
XM_006723392.2:c.*227_*230del	XP_006723455.1:n.*227_*230del
XM_006723393.2:c.*227_*230del	XP_006723456.1:n.*227_*230del
XM_011527334.1:c.*227_*230del	XP_011525636.1:n.*227_*230del
XM_011527335.1:c.*227_*230del	XP_011525637.1:n.*227_*230del
XM_011527336.1:c.*227_*230del	XP_011525638.1:n.*227_*230del
XM_011527337.1:c.*227_*230del	XP_011525639.1:n.*227_*230del
XM_011527338.1:c.*227_*230del	XP_011525640.1:n.*227_*230del
NM_024876.4:c.*227_*230del MANE Select	NP_079152.3:n.*227_*230del
NM_001142555.3:c.*227_*230del	NP_001136027.1:n.*227_*230del