Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966164_37966180del , CM000670.2:g.37966164_37966180del | GRCh38 |
| NC_000008.10:g.37823682_37823698del , CM000670.1:g.37823682_37823698del | GRCh37 |
| NC_000008.9:g.37942839_37942855del | NCBI36 |
| NG_011936.1:g.5491_5507del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.294_310del MANE Select | NP_000016.1:p.Leu99ValfsTer? |
| ENST00000345060.5:c.294_310del MANE Select | ENSP00000343782.3:p.Leu99ValfsTer? |
| NM_000025.2:c.294_310del | NP_000016.1:p.Leu99ValfsTer? |
| ENST00000345060.4:c.294_310del | ENSP00000343782.3:p.Leu99ValfsTer? |
| ENST00000520341.2:n.422_438del | |
| ENST00000614635.1:c.294_310del | ENSP00000480325.1:p.Leu99ValfsTer? |