Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990467_45990559del , CM000683.2:g.45990467_45990559del | GRCh38 |
| NC_000021.8:g.47410381_47410473del , CM000683.1:g.47410381_47410473del | GRCh37 |
| NC_000021.7:g.46234809_46234901del | NCBI36 |
| NG_008674.1:g.13719_13811del , LRG_475:g.13719_13811del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+45_1002+137del MANE Select | ENSP00000355180.3:n.1002+45_1002+137del | |
| ENST00000361866.7:c.1002+45_1002+137del | ENSP00000355180.3:n.1002+45_1002+137del | |
| ENST00000612273.1:c.1002+45_1002+137del | ENSP00000483630.1:n.1002+45_1002+137del | |
| NM_001848.2:c.1002+45_1002+137del , LRG_475t1:c.1002+45_1002+137del | NP_001839.2:n.1002+45_1002+137del | |
| NM_001848.3:c.1002+45_1002+137del MANE Select | NP_001839.2:n.1002+45_1002+137del |