Canonical Allele Identifier: CA1225123262

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982418_226982430delinsAAATTTCTTTTGT , CM000663.2:g.226982418_226982430delinsAAATTTCTTTTGT	GRCh38
NC_000001.10:g.227170119_227170131delinsAAATTTCTTTTGT , CM000663.1:g.227170119_227170131delinsAAATTTCTTTTGT	GRCh37
NC_000001.9:g.225236742_225236754delinsAAATTTCTTTTGT	NCBI36
NG_012825.1:g.47182_47194delinsAAATTTCTTTTGT
NG_012825.2:g.89883_89895delinsAAATTTCTTTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.854-260_854-248delinsAAATTTCTTTTGT MANE Select	ENSP00000355739.3:n.854-260_854-248delinsAAATTTCTTTTGT
ENST00000366779.6:c.*5581-260_*5581-248delinsAAATTTCTTTTGT	ENSP00000355741.2:n.*5581-260_*5581-248delinsAAATTTCTTTTGT
ENST00000676884.1:c.*5703-260_*5703-248delinsAAATTTCTTTTGT	ENSP00000503200.1:n.*5703-260_*5703-248delinsAAATTTCTTTTGT
ENST00000366777.3:c.854-260_854-248delinsAAATTTCTTTTGT	ENSP00000355739.3:n.854-260_854-248delinsAAATTTCTTTTGT
ENST00000366778.5:c.698-260_698-248delinsAAATTTCTTTTGT	ENSP00000355740.1:n.698-260_698-248delinsAAATTTCTTTTGT
ENST00000366779.5:c.854-260_854-248delinsAAATTTCTTTTGT	ENSP00000355741.1:n.854-260_854-248delinsAAATTTCTTTTGT
ENST00000478406.5:n.573_585delinsAAATTTCTTTTGT
ENST00000485462.5:n.244-260_244-248delinsAAATTTCTTTTGT
NM_020247.4:c.854-260_854-248delinsAAATTTCTTTTGT	NP_064632.2:n.854-260_854-248delinsAAATTTCTTTTGT
XM_005273201.1:c.854-260_854-248delinsAAATTTCTTTTGT	XP_005273258.1:n.854-260_854-248delinsAAATTTCTTTTGT
XM_011544238.1:c.854-260_854-248delinsAAATTTCTTTTGT	XP_011542540.1:n.854-260_854-248delinsAAATTTCTTTTGT
XM_011544239.1:c.854-260_854-248delinsAAATTTCTTTTGT	XP_011542541.1:n.854-260_854-248delinsAAATTTCTTTTGT
XM_011544240.1:c.854-260_854-248delinsAAATTTCTTTTGT	XP_011542542.1:n.854-260_854-248delinsAAATTTCTTTTGT
XM_011544241.1:c.854-260_854-248delinsAAATTTCTTTTGT	XP_011542543.1:n.854-260_854-248delinsAAATTTCTTTTGT
XM_011544239.2:c.854-260_854-248delinsAAATTTCTTTTGT	XP_011542541.1:n.854-260_854-248delinsAAATTTCTTTTGT
XM_011544241.2:c.854-260_854-248delinsAAATTTCTTTTGT	XP_011542543.1:n.854-260_854-248delinsAAATTTCTTTTGT
XM_017001852.1:c.854-260_854-248delinsAAATTTCTTTTGT	XP_016857341.1:n.854-260_854-248delinsAAATTTCTTTTGT
XM_024448517.1:c.854-260_854-248delinsAAATTTCTTTTGT	XP_024304285.1:n.854-260_854-248delinsAAATTTCTTTTGT
XM_024448518.1:c.854-260_854-248delinsAAATTTCTTTTGT	XP_024304286.1:n.854-260_854-248delinsAAATTTCTTTTGT
NM_020247.5:c.854-260_854-248delinsAAATTTCTTTTGT MANE Select	NP_064632.2:n.854-260_854-248delinsAAATTTCTTTTGT