Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713813_6713815del , CM000681.2:g.6713813_6713815del | GRCh38 |
| NC_000019.9:g.6713824_6713826del , CM000681.1:g.6713824_6713826del | GRCh37 |
| NC_000019.8:g.6664824_6664826del | NCBI36 |
| NG_009557.1:g.11838_11840del , LRG_27:g.11838_11840del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+178_650+180del | ENSP00000512083.1:n.650+178_650+180del | |
| ENST00000245907.11:c.773+178_773+180del MANE Select | ENSP00000245907.4:n.773+178_773+180del | |
| ENST00000245907.10:c.773+178_773+180del | ENSP00000245907.4:n.773+178_773+180del | |
| ENST00000595577.1:n.277+178_277+180del | ||
| NM_000064.3:c.773+178_773+180del | NP_000055.2:n.773+178_773+180del | |
| NM_000064.4:c.773+178_773+180del MANE Select | NP_000055.2:n.773+178_773+180del |