Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965590del , CM000670.2:g.37965590del | GRCh38 |
| NC_000008.10:g.37823108del , CM000670.1:g.37823108del | GRCh37 |
| NC_000008.9:g.37942265del | NCBI36 |
| NG_011936.1:g.6078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.881del MANE Select | ENSP00000343782.3:p.Leu294TrpfsTer29 | |
| ENST00000520341.2:n.1009del | ||
| ENST00000647937.1:c.365del | ENSP00000497740.1:p.Leu122TrpfsTer29 | |
| ENST00000345060.4:c.881del | ENSP00000343782.3:p.Leu294TrpfsTer29 | |
| ENST00000520341.1:n.156del | ||
| ENST00000614635.1:c.881del | ENSP00000480325.1:p.Leu294TrpfsTer29 | |
| NM_000025.2:c.881del | NP_000016.1:p.Leu294TrpfsTer29 | |
| NM_000025.3:c.881del MANE Select | NP_000016.1:p.Leu294TrpfsTer29 |