Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36701532_36701533del , CM000684.2:g.36701532_36701533del | GRCh38 |
| NC_000022.10:g.37097577_37097578del , CM000684.1:g.37097577_37097578del | GRCh37 |
| NC_000022.9:g.35427523_35427524del | NCBI36 |
| NG_031861.1:g.6113_6114del | |
| NG_031861.2:g.6326_6327del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.211+833_211+834del MANE Select | ENSP00000300105.6:n.211+833_211+834del | |
| ENST00000300105.6:c.211+833_211+834del | ENSP00000300105.6:n.211+833_211+834del | |
| NM_006078.3:c.211+833_211+834del | NP_006069.1:n.211+833_211+834del | |
| NM_006078.4:c.211+833_211+834del | NP_006069.1:n.211+833_211+834del | |
| NM_001379051.1:c.142+833_142+834del | NP_001365980.1:n.142+833_142+834del | |
| NM_006078.5:c.211+833_211+834del MANE Select | NP_006069.1:n.211+833_211+834del | |
| NR_166440.1:n.1387+833_1387+834del |