Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990461_45990462insC , CM000683.2:g.45990461_45990462insC | GRCh38 |
| NC_000021.8:g.47410375_47410376insC , CM000683.1:g.47410375_47410376insC | GRCh37 |
| NC_000021.7:g.46234803_46234804insC | NCBI36 |
| NG_008674.1:g.13713_13714insC , LRG_475:g.13713_13714insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+39_1002+40insC MANE Select | ENSP00000355180.3:n.1002+39_1002+40insC | |
| ENST00000361866.7:c.1002+39_1002+40insC | ENSP00000355180.3:n.1002+39_1002+40insC | |
| ENST00000612273.1:c.1002+39_1002+40insC | ENSP00000483630.1:n.1002+39_1002+40insC | |
| NM_001848.2:c.1002+39_1002+40insC , LRG_475t1:c.1002+39_1002+40insC | NP_001839.2:n.1002+39_1002+40insC | |
| NM_001848.3:c.1002+39_1002+40insC MANE Select | NP_001839.2:n.1002+39_1002+40insC |