Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966163_37966188del , CM000670.2:g.37966163_37966188del | GRCh38 |
| NC_000008.10:g.37823681_37823706del , CM000670.1:g.37823681_37823706del | GRCh37 |
| NC_000008.9:g.37942838_37942863del | NCBI36 |
| NG_011936.1:g.5483_5508del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.286_311del MANE Select | ENSP00000343782.3:p.Thr96ValfsTer? | |
| ENST00000520341.2:n.414_439del | ||
| ENST00000345060.4:c.286_311del | ENSP00000343782.3:p.Thr96ValfsTer? | |
| ENST00000614635.1:c.286_311del | ENSP00000480325.1:p.Thr96ValfsTer? | |
| NM_000025.2:c.286_311del | NP_000016.1:p.Thr96ValfsTer? | |
| NM_000025.3:c.286_311del MANE Select | NP_000016.1:p.Thr96ValfsTer? |