Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713746_6713792del , CM000681.2:g.6713746_6713792del | GRCh38 |
| NC_000019.9:g.6713757_6713803del , CM000681.1:g.6713757_6713803del | GRCh37 |
| NC_000019.8:g.6664757_6664803del | NCBI36 |
| NG_009557.1:g.11877_11923del , LRG_27:g.11877_11923del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+217_651-220del | ENSP00000512083.1:n.650+217_651-220del | |
| ENST00000245907.11:c.773+217_774-220del MANE Select | ENSP00000245907.4:n.773+217_774-220del | |
| ENST00000245907.10:c.773+217_774-220del | ENSP00000245907.4:n.773+217_774-220del | |
| ENST00000595577.1:n.277+217_278-220del | ||
| NM_000064.3:c.773+217_774-220del | NP_000055.2:n.773+217_774-220del | |
| NM_000064.4:c.773+217_774-220del MANE Select | NP_000055.2:n.773+217_774-220del |