Canonical Allele Identifier: CA657384419

Gene: COQ8B

Linked Data

• COSMIC: COSN24988443

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700281_40700282insTCATGGTCTCTCT , CM000681.2:g.40700281_40700282insTCATGGTCTCTCT	GRCh38
NC_000019.9:g.41206186_41206187insTCATGGTCTCTCT , CM000681.1:g.41206186_41206187insTCATGGTCTCTCT	GRCh37
NC_000019.8:g.45898026_45898027insTCATGGTCTCTCT	NCBI36
NG_027800.1:g.21604_21605insAGAGAGACCATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1035+28_1035+29insAGAGAGACCATGA MANE Select	ENSP00000315118.3:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000593724.2:n.2858+28_2858+29insAGAGAGACCATGA
ENST00000594490.6:c.957+28_957+29insAGAGAGACCATGA	ENSP00000471310.2:n.957+28_957+29insAGAGAGACCATGA
ENST00000594720.6:c.1035+28_1035+29insAGAGAGACCATGA	ENSP00000470876.2:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000596455.6:n.1327+28_1327+29insAGAGAGACCATGA
ENST00000601967.6:c.1035+28_1035+29insAGAGAGACCATGA	ENSP00000470916.2:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000676555.1:c.1035+28_1035+29insAGAGAGACCATGA	ENSP00000503387.1:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000676578.1:c.*777+28_*777+29insAGAGAGACCATGA	ENSP00000504076.1:n.*777+28_*777+29insAGAGAGACCATGA
ENST00000676960.1:n.1160+28_1160+29insAGAGAGACCATGA
ENST00000676962.1:n.1314+28_1314+29insAGAGAGACCATGA
ENST00000677018.1:c.1035+28_1035+29insAGAGAGACCATGA	ENSP00000503480.1:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000677039.1:n.3238+28_3238+29insAGAGAGACCATGA
ENST00000677399.1:n.1477+28_1477+29insAGAGAGACCATGA
ENST00000677496.1:c.708+28_708+29insAGAGAGACCATGA	ENSP00000504773.1:n.708+28_708+29insAGAGAGACCATGA
ENST00000677517.1:c.708+28_708+29insAGAGAGACCATGA	ENSP00000503519.1:n.708+28_708+29insAGAGAGACCATGA
ENST00000677633.1:c.*458+28_*458+29insAGAGAGACCATGA	ENSP00000503645.1:n.*458+28_*458+29insAGAGAGACCATGA
ENST00000677800.1:c.*4139+28_*4139+29insAGAGAGACCATGA	ENSP00000503794.1:n.*4139+28_*4139+29insAGAGAGACCATGA
ENST00000678057.1:c.*599+28_*599+29insAGAGAGACCATGA	ENSP00000503762.1:n.*599+28_*599+29insAGAGAGACCATGA
ENST00000678119.1:n.1229+28_1229+29insAGAGAGACCATGA
ENST00000678166.1:n.1178+28_1178+29insAGAGAGACCATGA
ENST00000678312.1:n.1372+28_1372+29insAGAGAGACCATGA
ENST00000678316.1:c.*458+28_*458+29insAGAGAGACCATGA	ENSP00000504112.1:n.*458+28_*458+29insAGAGAGACCATGA
ENST00000678371.1:n.1485+28_1485+29insAGAGAGACCATGA
ENST00000678404.1:c.1035+28_1035+29insAGAGAGACCATGA	ENSP00000503944.1:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000678419.1:c.1035+28_1035+29insAGAGAGACCATGA	ENSP00000504085.1:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000678433.1:n.1391+28_1391+29insAGAGAGACCATGA
ENST00000678467.1:c.1035+28_1035+29insAGAGAGACCATGA	ENSP00000504072.1:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000678569.1:c.*20+28_*20+29insAGAGAGACCATGA	ENSP00000504261.1:n.*20+28_*20+29insAGAGAGACCATGA
ENST00000678961.1:n.1390+28_1390+29insAGAGAGACCATGA
ENST00000679002.1:n.1214+28_1214+29insAGAGAGACCATGA
ENST00000679012.1:c.591+28_591+29insAGAGAGACCATGA	ENSP00000504446.1:n.591+28_591+29insAGAGAGACCATGA
ENST00000679070.1:c.*454+28_*454+29insAGAGAGACCATGA	ENSP00000503759.1:n.*454+28_*454+29insAGAGAGACCATGA
ENST00000679130.1:c.1035+28_1035+29insAGAGAGACCATGA	ENSP00000504845.1:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000679315.1:c.*865+28_*865+29insAGAGAGACCATGA	ENSP00000503065.1:n.*865+28_*865+29insAGAGAGACCATGA
ENST00000243583.10:c.912+28_912+29insAGAGAGACCATGA	ENSP00000243583.5:n.912+28_912+29insAGAGAGACCATGA
ENST00000324464.7:c.1035+28_1035+29insAGAGAGACCATGA	ENSP00000315118.3:n.1035+28_1035+29insAGAGAGACCATGA
ENST00000593724.1:n.1150+28_1150+29insAGAGAGACCATGA
NM_001142555.2:c.912+28_912+29insAGAGAGACCATGA	NP_001136027.1:n.912+28_912+29insAGAGAGACCATGA
NM_024876.3:c.1035+28_1035+29insAGAGAGACCATGA	NP_079152.3:n.1035+28_1035+29insAGAGAGACCATGA
XM_005259270.3:c.1197+28_1197+29insAGAGAGACCATGA	XP_005259327.2:n.1197+28_1197+29insAGAGAGACCATGA
XM_005259271.3:c.1035+28_1035+29insAGAGAGACCATGA	XP_005259328.1:n.1035+28_1035+29insAGAGAGACCATGA
XM_005259272.3:c.1035+28_1035+29insAGAGAGACCATGA	XP_005259329.1:n.1035+28_1035+29insAGAGAGACCATGA
XM_005259273.3:c.1035+28_1035+29insAGAGAGACCATGA	XP_005259330.1:n.1035+28_1035+29insAGAGAGACCATGA
XM_006723392.2:c.1035+28_1035+29insAGAGAGACCATGA	XP_006723455.1:n.1035+28_1035+29insAGAGAGACCATGA
XM_006723393.2:c.1035+28_1035+29insAGAGAGACCATGA	XP_006723456.1:n.1035+28_1035+29insAGAGAGACCATGA
XM_011527334.1:c.1035+28_1035+29insAGAGAGACCATGA	XP_011525636.1:n.1035+28_1035+29insAGAGAGACCATGA
XM_011527335.1:c.894+28_894+29insAGAGAGACCATGA	XP_011525637.1:n.894+28_894+29insAGAGAGACCATGA
XM_011527336.1:c.1065+28_1065+29insAGAGAGACCATGA	XP_011525638.1:n.1065+28_1065+29insAGAGAGACCATGA
XM_011527337.1:c.1035+28_1035+29insAGAGAGACCATGA	XP_011525639.1:n.1035+28_1035+29insAGAGAGACCATGA
XM_011527338.1:c.1035+28_1035+29insAGAGAGACCATGA	XP_011525640.1:n.1035+28_1035+29insAGAGAGACCATGA
NM_024876.4:c.1035+28_1035+29insAGAGAGACCATGA MANE Select	NP_079152.3:n.1035+28_1035+29insAGAGAGACCATGA
NM_001142555.3:c.912+28_912+29insAGAGAGACCATGA	NP_001136027.1:n.912+28_912+29insAGAGAGACCATGA