Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987882_45987883insT , CM000683.2:g.45987882_45987883insT | GRCh38 |
| NC_000021.8:g.47407796_47407797insT , CM000683.1:g.47407796_47407797insT | GRCh37 |
| NC_000021.7:g.46232224_46232225insT | NCBI36 |
| NG_008674.1:g.11134_11135insT , LRG_475:g.11134_11135insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.804+228_804+229insT MANE Select | ENSP00000355180.3:n.804+228_804+229insT | |
| ENST00000361866.7:c.804+228_804+229insT | ENSP00000355180.3:n.804+228_804+229insT | |
| ENST00000612273.1:c.804+228_804+229insT | ENSP00000483630.1:n.804+228_804+229insT | |
| NM_001848.2:c.804+228_804+229insT , LRG_475t1:c.804+228_804+229insT | NP_001839.2:n.804+228_804+229insT | |
| NM_001848.3:c.804+228_804+229insT MANE Select | NP_001839.2:n.804+228_804+229insT |