Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60644953_60644956del , CM000676.2:g.60644953_60644956del | GRCh38 |
| NC_000014.8:g.61111671_61111674del , CM000676.1:g.61111671_61111674del | GRCh37 |
| NC_000014.7:g.60181424_60181427del | NCBI36 |
| NG_008231.1:g.9483_9486del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.*1328_*1331del MANE Select | ENSP00000494686.1:n.*1328_*1331del | |
| ENST00000247182.6:c.*1328_*1331del | ENSP00000247182.5:n.*1328_*1331del | |
| ENST00000554986.2:c.*1328_*1331del | ENSP00000452700.2:n.*1328_*1331del | |
| ENST00000555955.3:n.2820_2823del | ||
| NM_005982.3:c.*1328_*1331del | NP_005973.1:n.*1328_*1331del | |
| XM_017021602.2:c.*1602_*1605del | XP_016877091.1:n.*1602_*1605del | |
| NM_005982.4:c.*1328_*1331del MANE Select | NP_005973.1:n.*1328_*1331del |