Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216070519_216070520insC , CM000663.2:g.216070519_216070520insC | GRCh38 |
| NC_000001.10:g.216243861_216243862insC , CM000663.1:g.216243861_216243862insC | GRCh37 |
| NC_000001.9:g.214310484_214310485insC | NCBI36 |
| NG_009497.1:g.357877_357878insG | |
| NG_009497.2:g.357929_357930insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5858-228_5858-227insG MANE Select | ENSP00000305941.3:n.5858-228_5858-227insG | |
| ENST00000674083.1:c.5858-228_5858-227insG | ENSP00000501296.1:n.5858-228_5858-227insG | |
| ENST00000307340.7:c.5858-228_5858-227insG | ENSP00000305941.3:n.5858-228_5858-227insG | |
| NM_206933.2:c.5858-228_5858-227insG | NP_996816.2:n.5858-228_5858-227insG | |
| NM_206933.3:c.5858-228_5858-227insG | NP_996816.2:n.5858-228_5858-227insG | |
| NM_206933.4:c.5858-228_5858-227insG MANE Select | NP_996816.3:n.5858-228_5858-227insG |