Canonical Allele Identifier: CA2650792931

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226982232-A-AAGGGTGCAGGTGGCCTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982232_226982233insAGGGTGCAGGTGGCCTTTTT , CM000663.2:g.226982232_226982233insAGGGTGCAGGTGGCCTTTTT	GRCh38
NC_000001.10:g.227169933_227169934insAGGGTGCAGGTGGCCTTTTT , CM000663.1:g.227169933_227169934insAGGGTGCAGGTGGCCTTTTT	GRCh37
NC_000001.9:g.225236556_225236557insAGGGTGCAGGTGGCCTTTTT	NCBI36
NG_012825.1:g.46996_46997insAGGGTGCAGGTGGCCTTTTT
NG_012825.2:g.89697_89698insAGGGTGCAGGTGGCCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT MANE Select	ENSP00000355739.3:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
ENST00000366779.6:c.*5580+83_*5580+84insAGGGTGCAGGTGGCCTTTTT	ENSP00000355741.2:n.*5580+83_*5580+84insAGGGTGCAGGTGGCCTTTTT
ENST00000676884.1:c.*5702+83_*5702+84insAGGGTGCAGGTGGCCTTTTT	ENSP00000503200.1:n.*5702+83_*5702+84insAGGGTGCAGGTGGCCTTTTT
ENST00000366777.3:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	ENSP00000355739.3:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
ENST00000366778.5:c.697+83_697+84insAGGGTGCAGGTGGCCTTTTT	ENSP00000355740.1:n.697+83_697+84insAGGGTGCAGGTGGCCTTTTT
ENST00000366779.5:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	ENSP00000355741.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
ENST00000478406.5:n.387_388insAGGGTGCAGGTGGCCTTTTT
ENST00000485462.5:n.243+83_243+84insAGGGTGCAGGTGGCCTTTTT
NM_020247.4:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	NP_064632.2:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_005273201.1:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_005273258.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_011544238.1:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_011542540.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_011544239.1:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_011542541.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_011544240.1:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_011542542.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_011544241.1:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_011542543.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_011544239.2:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_011542541.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_011544241.2:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_011542543.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_017001852.1:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_016857341.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_024448517.1:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_024304285.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
XM_024448518.1:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT	XP_024304286.1:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT
NM_020247.5:c.853+83_853+84insAGGGTGCAGGTGGCCTTTTT MANE Select	NP_064632.2:n.853+83_853+84insAGGGTGCAGGTGGCCTTTTT