Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135817051del , CM000664.2:g.135817051del | GRCh38 |
| NC_000002.11:g.136574621del , CM000664.1:g.136574621del | GRCh37 |
| NC_000002.10:g.136291091del | NCBI36 |
| NG_008104.2:g.43126del , LRG_338:g.43126del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002299.4:c.1707+297del MANE Select | NP_002290.2:n.1707+297del |
| ENST00000264162.7:c.1707+297del MANE Select | ENSP00000264162.2:n.1707+297del |
| NM_002299.2:c.1707+297del , LRG_338t1:c.1707+297del | NP_002290.2:n.1707+297del |
| NM_002299.3:c.1707+297del | NP_002290.2:n.1707+297del |
| ENST00000264162.6:c.1707+297del | ENSP00000264162.2:n.1707+297del |
| XM_017004088.2:c.1707+297del | XP_016859577.1:n.1707+297del |