Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226941_5226953delinsCTCACCACCAACT , CM000673.2:g.5226941_5226953delinsCTCACCACCAACT | GRCh38 |
| NC_000011.9:g.5248171_5248183delinsCTCACCACCAACT , CM000673.1:g.5248171_5248183delinsCTCACCACCAACT | GRCh37 |
| NC_000011.8:g.5204747_5204759delinsCTCACCACCAACT | NCBI36 |
| NG_000007.3:g.70663_70675delinsAGTTGGTGGTGAG | |
| NG_059281.1:g.5119_5131delinsAGTTGGTGGTGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.69_81delinsAGTTGGTGGTGAG | ENSP00000494175.1:p.Glu23= | |
| ENST00000335295.4:c.69_81delinsAGTTGGTGGTGAG MANE Select | ENSP00000333994.3:p.Glu23= | |
| ENST00000380315.2:c.69_81delinsAGTTGGTGGTGAG | ENSP00000369671.2:p.Glu23= | |
| ENST00000485743.1:n.120_132delinsAGTTGGTGGTGAG | ||
| ENST00000633227.1:c.69_76+5delinsAGTTGGTGGTGAG | ||
| NM_000518.4:c.69_81delinsAGTTGGTGGTGAG | NP_000509.1:p.Glu23= | |
| NM_000518.5:c.69_81delinsAGTTGGTGGTGAG MANE Select | NP_000509.1:p.Glu23= |