Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191693_186191694delinsGC , CM000666.2:g.186191693_186191694delinsGC | GRCh38 |
| NC_000004.11:g.187112847_187112848delinsGC , CM000666.1:g.187112847_187112848delinsGC | GRCh37 |
| NC_000004.10:g.187349841_187349842delinsGC | NCBI36 |
| NG_007965.1:g.5174_5175delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-131_-130delinsGC MANE Select | ENSP00000368079.4:n.-131_-130delinsGC | |
| ENST00000378802.4:c.-131_-130delinsGC | ENSP00000368079.4:n.-131_-130delinsGC | |
| NM_207352.3:c.-131_-130delinsGC | NP_997235.3:n.-131_-130delinsGC | |
| XM_005262935.2:c.-131_-130delinsGC | XP_005262992.1:n.-131_-130delinsGC | |
| XM_017008037.1:c.-441_-440delinsGC | XP_016863526.1:n.-441_-440delinsGC | |
| NM_207352.4:c.-131_-130delinsGC MANE Select | NP_997235.3:n.-131_-130delinsGC |