Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215889086_215889087insA , CM000663.2:g.215889086_215889087insA | GRCh38 |
| NC_000001.10:g.216062428_216062429insA , CM000663.1:g.216062428_216062429insA | GRCh37 |
| NC_000001.9:g.214129051_214129052insA | NCBI36 |
| NG_009497.1:g.539310_539311insT | |
| NG_009497.2:g.539362_539363insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.7595-33_7595-32insT MANE Select | ENSP00000305941.3:n.7595-33_7595-32insT | |
| ENST00000674083.1:c.7595-33_7595-32insT | ENSP00000501296.1:n.7595-33_7595-32insT | |
| ENST00000307340.7:c.7595-33_7595-32insT | ENSP00000305941.3:n.7595-33_7595-32insT | |
| NM_206933.2:c.7595-33_7595-32insT | NP_996816.2:n.7595-33_7595-32insT | |
| NM_206933.3:c.7595-33_7595-32insT | NP_996816.2:n.7595-33_7595-32insT | |
| NM_206933.4:c.7595-33_7595-32insT MANE Select | NP_996816.3:n.7595-33_7595-32insT |