Canonical Allele Identifier: CA2650793957

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983608-GAACATGAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983615_226983623del , CM000663.2:g.226983615_226983623del	GRCh38
NC_000001.10:g.227171316_227171324del , CM000663.1:g.227171316_227171324del	GRCh37
NC_000001.9:g.225237939_225237947del	NCBI36
NG_012825.1:g.48379_48387del
NG_012825.2:g.91080_91088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1144_1152del MANE Select	ENSP00000355739.3:p.Ser382_Met384del
ENST00000366779.6:c.*5871_*5879del	ENSP00000355741.2:n.*5871_*5879del
ENST00000676884.1:c.*5993_*6001del	ENSP00000503200.1:n.*5993_*6001del
ENST00000366777.3:c.1144_1152del	ENSP00000355739.3:p.Ser382_Met384del
ENST00000366778.5:c.988_996del	ENSP00000355740.1:p.Ser330_Met332del
ENST00000366779.5:c.1144_1152del	ENSP00000355741.1:p.Ser382_Met384del
ENST00000478406.5:n.1640_1648del
ENST00000479852.1:n.92_100del
ENST00000485462.5:n.534_542del
NM_020247.4:c.1144_1152del	NP_064632.2:p.Ser382_Met384del
XM_005273201.1:c.1144_1152del	XP_005273258.1:p.Ser382_Met384del
XM_011544238.1:c.1144_1152del	XP_011542540.1:p.Ser382_Met384del
XM_011544239.1:c.1144_1152del	XP_011542541.1:p.Ser382_Met384del
XM_011544240.1:c.1144_1152del	XP_011542542.1:p.Ser382_Met384del
XM_011544241.1:c.1144_1152del	XP_011542543.1:p.Ser382_Met384del
XM_011544239.2:c.1144_1152del	XP_011542541.1:p.Ser382_Met384del
XM_011544241.2:c.1144_1152del	XP_011542543.1:p.Ser382_Met384del
XM_017001852.1:c.1144_1152del	XP_016857341.1:p.Ser382_Met384del
XM_024448517.1:c.1144_1152del	XP_024304285.1:p.Ser382_Met384del
XM_024448518.1:c.1144_1152del	XP_024304286.1:p.Ser382_Met384del
NM_020247.5:c.1144_1152del MANE Select	NP_064632.2:p.Ser382_Met384del