Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24291077_24291078delinsGC , CM000668.2:g.24291077_24291078delinsGC | GRCh38 |
| NC_000006.11:g.24291305_24291306delinsGC , CM000668.1:g.24291305_24291306delinsGC | GRCh37 |
| NC_000006.10:g.24399284_24399285delinsGC | NCBI36 |
| NG_012829.1:g.71975_71976delinsGC | |
| NG_012829.2:g.97215_97216delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.558_559delinsGC MANE Select | ENSP00000367715.3:p.Arg186= | |
| ENST00000378454.7:c.558_559delinsGC | ENSP00000367715.3:p.Arg186= | |
| NM_001195610.1:c.558_559delinsGC | NP_001182539.1:p.Arg186= | |
| NM_016356.4:c.558_559delinsGC | NP_057440.2:p.Arg186= | |
| NM_016356.5:c.558_559delinsGC MANE Select | NP_057440.2:p.Arg186= | |
| NM_001195610.2:c.558_559delinsGC | NP_001182539.1:p.Arg186= |