Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194516_186194519del , CM000666.2:g.186194516_186194519del | GRCh38 |
| NC_000004.11:g.187115670_187115673del , CM000666.1:g.187115670_187115673del | GRCh37 |
| NC_000004.10:g.187352664_187352667del | NCBI36 |
| NG_007965.1:g.7997_8000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.231_234del MANE Select | ENSP00000368079.4:p.Ile77MetfsTer13 | |
| ENST00000378802.4:c.231_234del | ENSP00000368079.4:p.Ile77MetfsTer13 | |
| NM_207352.3:c.231_234del | NP_997235.3:p.Ile77MetfsTer13 | |
| XM_005262935.2:c.231_234del | XP_005262992.1:p.Ile77MetfsTer13 | |
| XM_005262935.4:c.231_234del | XP_005262992.1:p.Ile77MetfsTer13 | |
| XM_017008037.1:c.-80_-77del | XP_016863526.1:n.-80_-77del | |
| NM_207352.4:c.231_234del MANE Select | NP_997235.3:p.Ile77MetfsTer13 |