Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722014_42722029delinsGAGAACACAGATAGCC , CM000668.2:g.42722014_42722029delinsGAGAACACAGATAGCC | GRCh38 |
| NC_000006.11:g.42689752_42689767delinsGAGAACACAGATAGCC , CM000668.1:g.42689752_42689767delinsGAGAACACAGATAGCC | GRCh37 |
| NC_000006.10:g.42797730_42797745delinsGAGAACACAGATAGCC | NCBI36 |
| NG_009176.1:g.5592_5607delinsGGCTATCTGTGTTCTC | |
| NG_009176.2:g.5592_5607delinsGGCTATCTGTGTTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.306_321delinsGGCTATCTGTGTTCTC MANE Select | ENSP00000230381.5:p.Leu102= | |
| ENST00000230381.6:c.306_321delinsGGCTATCTGTGTTCTC | ENSP00000230381.5:p.Leu102= | |
| NM_000322.4:c.306_321delinsGGCTATCTGTGTTCTC | NP_000313.2:p.Leu102= | |
| XR_427834.2:n.961_976delinsGGCTATCTGTGTTCTC | ||
| XR_926295.1:n.961_976delinsGGCTATCTGTGTTCTC | ||
| XR_427834.4:n.1011_1026delinsGGCTATCTGTGTTCTC | ||
| XR_926295.3:n.1011_1026delinsGGCTATCTGTGTTCTC | ||
| NM_000322.5:c.306_321delinsGGCTATCTGTGTTCTC MANE Select | NP_000313.2:p.Leu102= |