Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135833211dup , CM000664.2:g.135833211dup | GRCh38 |
| NC_000002.11:g.136590781dup , CM000664.1:g.136590781dup | GRCh37 |
| NC_000002.10:g.136307251dup | NCBI36 |
| NG_008104.2:g.26959dup , LRG_338:g.26959dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.641-21dup MANE Select | ENSP00000264162.2:n.641-21dup | |
| ENST00000264162.6:c.641-21dup | ENSP00000264162.2:n.641-21dup | |
| NM_002299.2:c.641-21dup , LRG_338t1:c.641-21dup | NP_002290.2:n.641-21dup | |
| NM_002299.3:c.641-21dup | NP_002290.2:n.641-21dup | |
| XM_017004088.2:c.641-21dup | XP_016859577.1:n.641-21dup | |
| NM_002299.4:c.641-21dup MANE Select | NP_002290.2:n.641-21dup |