Linked Data
gnomAD v4:
2-135789456-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135789459_135789461del , CM000664.2:g.135789459_135789461del | GRCh38 |
| NC_000002.11:g.136547029_136547031del , CM000664.1:g.136547029_136547031del | GRCh37 |
| NC_000002.10:g.136263499_136263501del | NCBI36 |
| NG_008104.2:g.70711_70713del , LRG_338:g.70711_70713del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.5563+112_5563+114del MANE Select | ENSP00000264162.2:n.5563+112_5563+114del | |
| ENST00000264162.6:c.5563+112_5563+114del | ENSP00000264162.2:n.5563+112_5563+114del | |
| NM_002299.2:c.5563+112_5563+114del , LRG_338t1:c.5563+112_5563+114del | NP_002290.2:n.5563+112_5563+114del | |
| NM_002299.3:c.5563+112_5563+114del | NP_002290.2:n.5563+112_5563+114del | |
| NM_002299.4:c.5563+112_5563+114del MANE Select | NP_002290.2:n.5563+112_5563+114del |