Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728471_215728472insA , CM000663.2:g.215728471_215728472insA | GRCh38 |
| NC_000001.10:g.215901813_215901814insA , CM000663.1:g.215901813_215901814insA | GRCh37 |
| NC_000001.9:g.213968436_213968437insA | NCBI36 |
| NG_009497.1:g.699925_699926insT | |
| NG_009497.2:g.699977_699978insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11712-88_11712-87insT MANE Select | ENSP00000305941.3:n.11712-88_11712-87insT | |
| ENST00000674083.1:c.11712-88_11712-87insT | ENSP00000501296.1:n.11712-88_11712-87insT | |
| ENST00000307340.7:c.11712-88_11712-87insT | ENSP00000305941.3:n.11712-88_11712-87insT | |
| NM_206933.2:c.11712-88_11712-87insT | NP_996816.2:n.11712-88_11712-87insT | |
| NM_206933.3:c.11712-88_11712-87insT | NP_996816.2:n.11712-88_11712-87insT | |
| NM_206933.4:c.11712-88_11712-87insT MANE Select | NP_996816.3:n.11712-88_11712-87insT |