Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799308_215799309insA , CM000663.2:g.215799308_215799309insA | GRCh38 |
| NC_000001.10:g.215972650_215972651insA , CM000663.1:g.215972650_215972651insA | GRCh37 |
| NC_000001.9:g.214039273_214039274insA | NCBI36 |
| NG_009497.1:g.629088_629089insT | |
| NG_009497.2:g.629140_629141insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9740-184_9740-183insT MANE Select | ENSP00000305941.3:n.9740-184_9740-183insT | |
| ENST00000674083.1:c.9740-184_9740-183insT | ENSP00000501296.1:n.9740-184_9740-183insT | |
| ENST00000307340.7:c.9740-184_9740-183insT | ENSP00000305941.3:n.9740-184_9740-183insT | |
| NM_206933.2:c.9740-184_9740-183insT | NP_996816.2:n.9740-184_9740-183insT | |
| NM_206933.3:c.9740-184_9740-183insT | NP_996816.2:n.9740-184_9740-183insT | |
| NM_206933.4:c.9740-184_9740-183insT MANE Select | NP_996816.3:n.9740-184_9740-183insT |