Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754744_74754745insC , CM000677.2:g.74754744_74754745insC | GRCh38 |
| NC_000015.9:g.75047085_75047086insC , CM000677.1:g.75047085_75047086insC | GRCh37 |
| NC_000015.8:g.72834138_72834139insC | NCBI36 |
| NG_008431.1:g.37203_37204insC | |
| NG_008431.2:g.37203_37204insC | |
| NG_061543.1:g.10900_10901insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1254-47_1254-46insC MANE Select | ENSP00000342007.4:n.1254-47_1254-46insC | |
| ENST00000343932.4:c.1254-47_1254-46insC | ENSP00000342007.4:n.1254-47_1254-46insC | |
| NM_000761.4:c.1254-47_1254-46insC | NP_000752.2:n.1254-47_1254-46insC | |
| NM_000761.5:c.1254-47_1254-46insC MANE Select | NP_000752.2:n.1254-47_1254-46insC |