Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965670_37965735del , CM000670.2:g.37965670_37965735del | GRCh38 |
| NC_000008.10:g.37823188_37823253del , CM000670.1:g.37823188_37823253del | GRCh37 |
| NC_000008.9:g.37942345_37942410del | NCBI36 |
| NG_011936.1:g.5941_6006del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.744_809del MANE Select | ENSP00000343782.3:p.Glu249_Glu270del | |
| ENST00000520341.2:n.872_937del | ||
| ENST00000647937.1:c.228_293del | ENSP00000497740.1:p.Glu77_Glu98del | |
| ENST00000345060.4:c.744_809del | ENSP00000343782.3:p.Glu249_Glu270del | |
| ENST00000520341.1:n.19_84del | ||
| ENST00000614635.1:c.744_809del | ENSP00000480325.1:p.Glu249_Glu270del | |
| NM_000025.2:c.744_809del | NP_000016.1:p.Glu249_Glu270del | |
| NM_000025.3:c.744_809del MANE Select | NP_000016.1:p.Glu249_Glu270del |