Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908292_147908294del , CM000663.2:g.147908292_147908294del | GRCh38 |
| NC_000001.10:g.147380419_147380421del , CM000663.1:g.147380419_147380421del | GRCh37 |
| NC_000001.9:g.145847043_145847045del | NCBI36 |
| NG_016242.1:g.10474_10476del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.337_339del MANE Select | ENSP00000358238.1:p.Glu113del | |
| ENST00000369235.1:c.337_339del | ENSP00000358238.1:p.Glu113del | |
| NM_005267.4:c.337_339del | NP_005258.2:p.Glu113del | |
| XM_011509416.1:c.337_339del | XP_011507718.1:p.Glu113del | |
| XM_011509417.1:c.337_339del | XP_011507719.1:p.Glu113del | |
| XM_011509417.2:c.337_339del | XP_011507719.1:p.Glu113del | |
| XR_002956281.1:n.1252_1254del | ||
| NM_005267.5:c.337_339del MANE Select | NP_005258.2:p.Glu113del |