Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424299_23424300del , CM000676.2:g.23424299_23424300del | GRCh38 |
| NC_000014.8:g.23893508_23893509del , CM000676.1:g.23893508_23893509del | GRCh37 |
| NC_000014.7:g.22963348_22963349del | NCBI36 |
| NG_007884.1:g.16364_16365del , LRG_384:g.16364_16365del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2680-149_2680-148del MANE Select | ENSP00000347507.3:n.2680-149_2680-148del | |
| ENST00000355349.3:c.2680-149_2680-148del | ENSP00000347507.3:n.2680-149_2680-148del | |
| NM_000257.3:c.2680-149_2680-148del | NP_000248.2:n.2680-149_2680-148del | |
| XR_245686.3:n.2786-149_2786-148del | ||
| XM_017021340.1:c.2680-149_2680-148del | XP_016876829.1:n.2680-149_2680-148del | |
| NM_000257.4:c.2680-149_2680-148del MANE Select | NP_000248.2:n.2680-149_2680-148del |