Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713674_6713676del , CM000681.2:g.6713674_6713676del | GRCh38 |
| NC_000019.9:g.6713685_6713687del , CM000681.1:g.6713685_6713687del | GRCh37 |
| NC_000019.8:g.6664685_6664687del | NCBI36 |
| NG_009557.1:g.11976_11978del , LRG_27:g.11976_11978del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-167_651-165del | ENSP00000512083.1:n.651-167_651-165del | |
| ENST00000245907.11:c.774-167_774-165del MANE Select | ENSP00000245907.4:n.774-167_774-165del | |
| ENST00000245907.10:c.774-167_774-165del | ENSP00000245907.4:n.774-167_774-165del | |
| ENST00000595577.1:n.278-167_278-165del | ||
| ENST00000597442.5:n.23+90_23+92del | ||
| NM_000064.3:c.774-167_774-165del | NP_000055.2:n.774-167_774-165del | |
| NM_000064.4:c.774-167_774-165del MANE Select | NP_000055.2:n.774-167_774-165del |