Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722068_42722076delinsGGCTGGGTC , CM000668.2:g.42722068_42722076delinsGGCTGGGTC | GRCh38 |
| NC_000006.11:g.42689806_42689814delinsGGCTGGGTC , CM000668.1:g.42689806_42689814delinsGGCTGGGTC | GRCh37 |
| NC_000006.10:g.42797784_42797792delinsGGCTGGGTC | NCBI36 |
| NG_009176.1:g.5545_5553delinsGACCCAGCC | |
| NG_009176.2:g.5545_5553delinsGACCCAGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.259_267delinsGACCCAGCC MANE Select | ENSP00000230381.5:p.Asp87= | |
| ENST00000230381.6:c.259_267delinsGACCCAGCC | ENSP00000230381.5:p.Asp87= | |
| NM_000322.4:c.259_267delinsGACCCAGCC | NP_000313.2:p.Asp87= | |
| XR_427834.2:n.914_922delinsGACCCAGCC | ||
| XR_926295.1:n.914_922delinsGACCCAGCC | ||
| XR_427834.4:n.964_972delinsGACCCAGCC | ||
| XR_926295.3:n.964_972delinsGACCCAGCC | ||
| NM_000322.5:c.259_267delinsGACCCAGCC MANE Select | NP_000313.2:p.Asp87= |