Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990550_45990551del , CM000683.2:g.45990550_45990551del | GRCh38 |
| NC_000021.8:g.47410464_47410465del , CM000683.1:g.47410464_47410465del | GRCh37 |
| NC_000021.7:g.46234892_46234893del | NCBI36 |
| NG_008674.1:g.13802_13803del , LRG_475:g.13802_13803del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+128_1002+129del MANE Select | ENSP00000355180.3:n.1002+128_1002+129del | |
| ENST00000361866.7:c.1002+128_1002+129del | ENSP00000355180.3:n.1002+128_1002+129del | |
| ENST00000612273.1:c.1002+128_1002+129del | ENSP00000483630.1:n.1002+128_1002+129del | |
| NM_001848.2:c.1002+128_1002+129del , LRG_475t1:c.1002+128_1002+129del | NP_001839.2:n.1002+128_1002+129del | |
| NM_001848.3:c.1002+128_1002+129del MANE Select | NP_001839.2:n.1002+128_1002+129del |