Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713666_6713673del , CM000681.2:g.6713666_6713673del | GRCh38 |
| NC_000019.9:g.6713677_6713684del , CM000681.1:g.6713677_6713684del | GRCh37 |
| NC_000019.8:g.6664677_6664684del | NCBI36 |
| NG_009557.1:g.11980_11987del , LRG_27:g.11980_11987del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-163_651-156del | ENSP00000512083.1:n.651-163_651-156del | |
| ENST00000245907.11:c.774-163_774-156del MANE Select | ENSP00000245907.4:n.774-163_774-156del | |
| ENST00000245907.10:c.774-163_774-156del | ENSP00000245907.4:n.774-163_774-156del | |
| ENST00000595577.1:n.278-163_278-156del | ||
| ENST00000597442.5:n.23+94_23+101del | ||
| NM_000064.3:c.774-163_774-156del | NP_000055.2:n.774-163_774-156del | |
| NM_000064.4:c.774-163_774-156del MANE Select | NP_000055.2:n.774-163_774-156del |