Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588460del , CM000672.2:g.113588460del | GRCh38 |
| NC_000010.10:g.115348219del , CM000672.1:g.115348219del | GRCh37 |
| NC_000010.9:g.115338209del | NCBI36 |
| NG_008956.1:g.40442del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.*91del MANE Select | ENSP00000277903.4:n.*91del | |
| ENST00000351270.3:c.*91del | ENSP00000277903.4:n.*91del | |
| ENST00000542051.5:c.*91del | ENSP00000443283.1:n.*91del | |
| NM_001177660.1:c.*91del | NP_001171131.1:n.*91del | |
| NM_004132.3:c.*91del | NP_004123.1:n.*91del | |
| NM_001177660.2:c.*91del | NP_001171131.1:n.*91del | |
| NM_004132.4:c.*91del | NP_004123.1:n.*91del | |
| NM_004132.5:c.*91del MANE Select | NP_004123.1:n.*91del | |
| NM_001177660.3:c.*91del | NP_001171131.1:n.*91del |