Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671368_215671369insA , CM000663.2:g.215671368_215671369insA | GRCh38 |
| NC_000001.10:g.215844710_215844711insA , CM000663.1:g.215844710_215844711insA | GRCh37 |
| NC_000001.9:g.213911333_213911334insA | NCBI36 |
| NG_009497.1:g.757028_757029insT | |
| NG_009497.2:g.757080_757081insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13812-76_13812-75insT MANE Select | ENSP00000305941.3:n.13812-76_13812-75insT | |
| ENST00000674083.1:c.13812-76_13812-75insT | ENSP00000501296.1:n.13812-76_13812-75insT | |
| ENST00000307340.7:c.13812-76_13812-75insT | ENSP00000305941.3:n.13812-76_13812-75insT | |
| NM_206933.2:c.13812-76_13812-75insT | NP_996816.2:n.13812-76_13812-75insT | |
| NM_206933.3:c.13812-76_13812-75insT | NP_996816.2:n.13812-76_13812-75insT | |
| NM_206933.4:c.13812-76_13812-75insT MANE Select | NP_996816.3:n.13812-76_13812-75insT |