Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2315197_2315200del , CM000678.2:g.2315197_2315200del | GRCh38 |
| NC_000016.9:g.2365198_2365201del , CM000678.1:g.2365198_2365201del | GRCh37 |
| NC_000016.8:g.2305199_2305202del | NCBI36 |
| NG_011790.1:g.30552_30555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.1111+2088_1111+2091del MANE Select | ENSP00000301732.5:n.1111+2088_1111+2091del | |
| ENST00000301732.9:c.1111+2088_1111+2091del | ENSP00000301732.5:n.1111+2088_1111+2091del | |
| ENST00000382381.7:c.1111+2088_1111+2091del | ENSP00000371818.3:n.1111+2088_1111+2091del | |
| ENST00000563623.5:n.1674+2088_1674+2091del | ||
| NM_001089.2:c.1111+2088_1111+2091del | NP_001080.2:n.1111+2088_1111+2091del | |
| NM_001089.3:c.1111+2088_1111+2091del MANE Select | NP_001080.2:n.1111+2088_1111+2091del |