Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713604_6713605del , CM000681.2:g.6713604_6713605del | GRCh38 |
| NC_000019.9:g.6713615_6713616del , CM000681.1:g.6713615_6713616del | GRCh37 |
| NC_000019.8:g.6664615_6664616del | NCBI36 |
| NG_009557.1:g.12047_12048del , LRG_27:g.12047_12048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-96_651-95del | ENSP00000512083.1:n.651-96_651-95del | |
| ENST00000695692.1:n.2_3del | ||
| ENST00000245907.11:c.774-96_774-95del MANE Select | ENSP00000245907.4:n.774-96_774-95del | |
| ENST00000245907.10:c.774-96_774-95del | ENSP00000245907.4:n.774-96_774-95del | |
| ENST00000595577.1:n.278-96_278-95del | ||
| ENST00000597442.5:n.24-96_24-95del | ||
| NM_000064.3:c.774-96_774-95del | NP_000055.2:n.774-96_774-95del | |
| NM_000064.4:c.774-96_774-95del MANE Select | NP_000055.2:n.774-96_774-95del |