Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945979_138946023del , CM000665.2:g.138945979_138946023del | GRCh38 |
| NC_000003.11:g.138664821_138664865del , CM000665.1:g.138664821_138664865del | GRCh37 |
| NC_000003.10:g.140147511_140147555del | NCBI36 |
| NG_012454.1:g.6126_6170del | |
| NG_029796.1:g.3746_3790del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.708_752del MANE Select | ENSP00000497217.1:p.Gly237_Pro251del | |
| ENST00000330315.3:c.708_752del | ENSP00000333188.3:p.Gly237_Pro251del | |
| NM_023067.3:c.708_752del | NP_075555.1:p.Gly237_Pro251del | |
| NM_023067.4:c.708_752del MANE Select | NP_075555.1:p.Gly237_Pro251del |