Canonical Allele Identifier: CA2573132784

Gene: COQ8A

Linked Data

• dbSNP Id: rs774113750

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984236_226984240del , CM000663.2:g.226984236_226984240del	GRCh38
NC_000001.10:g.227171937_227171941del , CM000663.1:g.227171937_227171941del	GRCh37
NC_000001.9:g.225238560_225238564del	NCBI36
NG_012825.1:g.49000_49004del
NG_012825.2:g.91701_91705del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1398+1_1398+5del
ENST00000366779.6:c.*6125+1_*6125+5del
ENST00000366777.3:c.1398+1_1398+5del
ENST00000366778.5:c.1242+1_1242+5del
ENST00000366779.5:c.1398+1_1398+5del
ENST00000478406.5:n.2260+1_2260+5del
ENST00000479852.1:n.585+1_585+5del
ENST00000485462.5:n.788+1_788+5del
NM_020247.4:c.1398+1_1398+5del
XM_005273201.1:c.1398+1_1398+5del
XM_011544238.1:c.1398+1_1398+5del
XM_011544239.1:c.1398+1_1398+5del
XM_011544240.1:c.1398+1_1398+5del
XM_011544241.1:c.1398+1_1398+5del
XM_011544239.2:c.1398+1_1398+5del
XM_011544241.2:c.1398+1_1398+5del
XM_017001852.1:c.1398+1_1398+5del
XM_024448517.1:c.1398+1_1398+5del
XM_024448518.1:c.1398+1_1398+5del
NM_020247.5:c.1398+1_1398+5del