Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713818_6713841del , CM000681.2:g.6713818_6713841del | GRCh38 |
| NC_000019.9:g.6713829_6713852del , CM000681.1:g.6713829_6713852del | GRCh37 |
| NC_000019.8:g.6664829_6664852del | NCBI36 |
| NG_009557.1:g.11817_11840del , LRG_27:g.11817_11840del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+157_650+180del | ENSP00000512083.1:n.650+157_650+180del | |
| ENST00000245907.11:c.773+157_773+180del MANE Select | ENSP00000245907.4:n.773+157_773+180del | |
| ENST00000245907.10:c.773+157_773+180del | ENSP00000245907.4:n.773+157_773+180del | |
| ENST00000595577.1:n.277+157_277+180del | ||
| NM_000064.3:c.773+157_773+180del | NP_000055.2:n.773+157_773+180del | |
| NM_000064.4:c.773+157_773+180del MANE Select | NP_000055.2:n.773+157_773+180del |