Canonical Allele Identifier: CA1425381

Gene: COQ8A

Linked Data

• dbSNP Id: rs746410263
• ExAC: 1:227171563 CCCCGGCCGGG / C
• gnomAD v2: 1-227171563-CCCCGGCCGGG-C
• gnomAD v3: 1-226983862-CCCCGGCCGGG-C
• gnomAD v4: 1-226983862-CCCCGGCCGGG-C
• MyVariant Identifiers: chr1:g.227171564_227171573del (hg19) ; chr1:g.226983863_226983872del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983866_226983875del , CM000663.2:g.226983866_226983875del	GRCh38
NC_000001.10:g.227171567_227171576del , CM000663.1:g.227171567_227171576del	GRCh37
NC_000001.9:g.225238190_225238199del	NCBI36
NG_012825.1:g.48630_48639del
NG_012825.2:g.91331_91340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1256+12_1256+21del MANE Select	ENSP00000355739.3:n.1256+12_1256+21del
ENST00000366779.6:c.*5983+12_*5983+21del	ENSP00000355741.2:n.*5983+12_*5983+21del
ENST00000366777.3:c.1256+12_1256+21del	ENSP00000355739.3:n.1256+12_1256+21del
ENST00000366778.5:c.1100+12_1100+21del	ENSP00000355740.1:n.1100+12_1100+21del
ENST00000366779.5:c.1256+12_1256+21del	ENSP00000355741.1:n.1256+12_1256+21del
ENST00000478406.5:n.1891_1900del
ENST00000479852.1:n.216_225del
ENST00000485462.5:n.646+12_646+21del
NM_020247.4:c.1256+12_1256+21del	NP_064632.2:n.1256+12_1256+21del
XM_005273201.1:c.1256+12_1256+21del	XP_005273258.1:n.1256+12_1256+21del
XM_011544238.1:c.1256+12_1256+21del	XP_011542540.1:n.1256+12_1256+21del
XM_011544239.1:c.1256+12_1256+21del	XP_011542541.1:n.1256+12_1256+21del
XM_011544240.1:c.1256+12_1256+21del	XP_011542542.1:n.1256+12_1256+21del
XM_011544241.1:c.1256+12_1256+21del	XP_011542543.1:n.1256+12_1256+21del
XM_011544239.2:c.1256+12_1256+21del	XP_011542541.1:n.1256+12_1256+21del
XM_011544241.2:c.1256+12_1256+21del	XP_011542543.1:n.1256+12_1256+21del
XM_017001852.1:c.1256+12_1256+21del	XP_016857341.1:n.1256+12_1256+21del
XM_024448517.1:c.1256+12_1256+21del	XP_024304285.1:n.1256+12_1256+21del
XM_024448518.1:c.1256+12_1256+21del	XP_024304286.1:n.1256+12_1256+21del
NM_020247.5:c.1256+12_1256+21del MANE Select	NP_064632.2:n.1256+12_1256+21del