Canonical Allele Identifier: CA2650795994

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984789-T-TCCCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984789_226984790insCCCAGA , CM000663.2:g.226984789_226984790insCCCAGA	GRCh38
NC_000001.10:g.227172490_227172491insCCCAGA , CM000663.1:g.227172490_227172491insCCCAGA	GRCh37
NC_000001.9:g.225239113_225239114insCCCAGA	NCBI36
NG_012825.1:g.49553_49554insCCCAGA
NG_012825.2:g.92254_92255insCCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1507-87_1507-86insCCCAGA MANE Select	ENSP00000355739.3:n.1507-87_1507-86insCCCAGA
ENST00000366779.6:c.*6234-87_*6234-86insCCCAGA	ENSP00000355741.2:n.*6234-87_*6234-86insCCCAGA
ENST00000366777.3:c.1507-87_1507-86insCCCAGA	ENSP00000355739.3:n.1507-87_1507-86insCCCAGA
ENST00000366778.5:c.1351-87_1351-86insCCCAGA	ENSP00000355740.1:n.1351-87_1351-86insCCCAGA
ENST00000366779.5:c.1507-87_1507-86insCCCAGA	ENSP00000355741.1:n.1507-87_1507-86insCCCAGA
ENST00000478406.5:n.2369-87_2369-86insCCCAGA
ENST00000479852.1:n.694-87_694-86insCCCAGA
ENST00000485462.5:n.897-87_897-86insCCCAGA
NM_020247.4:c.1507-87_1507-86insCCCAGA	NP_064632.2:n.1507-87_1507-86insCCCAGA
XM_005273201.1:c.1507-87_1507-86insCCCAGA	XP_005273258.1:n.1507-87_1507-86insCCCAGA
XM_011544238.1:c.1507-87_1507-86insCCCAGA	XP_011542540.1:n.1507-87_1507-86insCCCAGA
XM_011544239.1:c.1507-87_1507-86insCCCAGA	XP_011542541.1:n.1507-87_1507-86insCCCAGA
XM_011544240.1:c.1507-87_1507-86insCCCAGA	XP_011542542.1:n.1507-87_1507-86insCCCAGA
XM_011544241.1:c.1507-87_1507-86insCCCAGA	XP_011542543.1:n.1507-87_1507-86insCCCAGA
XM_011544239.2:c.1507-87_1507-86insCCCAGA	XP_011542541.1:n.1507-87_1507-86insCCCAGA
XM_011544241.2:c.1507-87_1507-86insCCCAGA	XP_011542543.1:n.1507-87_1507-86insCCCAGA
XM_017001852.1:c.1507-87_1507-86insCCCAGA	XP_016857341.1:n.1507-87_1507-86insCCCAGA
XM_024448517.1:c.1507-87_1507-86insCCCAGA	XP_024304285.1:n.1507-87_1507-86insCCCAGA
XM_024448518.1:c.1507-87_1507-86insCCCAGA	XP_024304286.1:n.1507-87_1507-86insCCCAGA
NM_020247.5:c.1507-87_1507-86insCCCAGA MANE Select	NP_064632.2:n.1507-87_1507-86insCCCAGA