Canonical Allele Identifier: CA10590113
Community Standard Title: NM_016035.5(COQ4):c.197_198delinsAA (p.Arg66Gln)
Gene: COQ4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128323142_128323143delinsAA , CM000671.2:g.128323142_128323143delinsAA GRCh38
NC_000009.11:g.131085421_131085422delinsAA , CM000671.1:g.131085421_131085422delinsAA GRCh37
NC_000009.10:g.130125242_130125243delinsAA NCBI36
NG_042101.1:g.5635_5636delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_016035.5:c.197_198delinsAA MANE Select NP_057119.3:p.Arg66Gln
ENST00000300452.8:c.197_198delinsAA MANE Select ENSP00000300452.3:p.Arg66Gln
NM_001305942.1:c.197_198delinsAA NP_001292871.1:p.Arg66Gln
NM_001305942.2:c.197_198delinsAA NP_001292871.2:p.Arg66Gln
NM_016035.3:c.197_198delinsAA NP_057119.2:p.Arg66Gln
NM_016035.4:c.197_198delinsAA NP_057119.2:p.Arg66Gln
ENST00000300452.7:c.197_198delinsAA ENSP00000300452.3:p.Arg66Gln
ENST00000372875.3:c.197_198delinsAA ENSP00000361966.3:p.Arg66Gln
ENST00000608951.5:c.197_198delinsAA ENSP00000476323.1:p.Arg66Gln
ENST00000609948.1:c.197_198delinsAA ENSP00000477292.1:p.Arg66Gln
XM_011518761.1:c.197_198delinsAA XP_011517063.1:p.Arg66Gln
XM_017014792.1:c.197_198delinsAA XP_016870281.1:p.Arg66Gln
XM_017014793.1:c.197_198delinsAA XP_016870282.1:p.Arg66Gln
XR_001746316.2:n.547_548delinsAA
XR_929805.1:n.543_544delinsAA
XR_929805.3:n.543_544delinsAA
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