Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154992938_154992940del , CM000685.2:g.154992938_154992940del | GRCh38 |
| NC_000023.10:g.154221213_154221215del , CM000685.1:g.154221213_154221215del | GRCh37 |
| NC_000023.9:g.153874407_153874409del | NCBI36 |
| NG_011403.1:g.34786_34788del | |
| NG_011403.2:g.34786_34788del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.599_601del MANE Select | ENSP00000353393.4:p.Glu200del | |
| ENST00000647125.1:c.*385_*387del | ENSP00000496062.1:n.*385_*387del | |
| ENST00000360256.8:c.599_601del | ENSP00000353393.4:p.Glu200del | |
| ENST00000423959.5:c.494_496del | ENSP00000409446.1:p.Glu165del | |
| NM_000132.3:c.599_601del | NP_000123.1:p.Glu200del | |
| XM_011531126.1:c.494_496del | XP_011529428.1:p.Glu165del | |
| NM_000132.4:c.599_601del MANE Select | NP_000123.1:p.Glu200del |