Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990504_45990509del , CM000683.2:g.45990504_45990509del | GRCh38 |
| NC_000021.8:g.47410418_47410423del , CM000683.1:g.47410418_47410423del | GRCh37 |
| NC_000021.7:g.46234846_46234851del | NCBI36 |
| NG_008674.1:g.13756_13761del , LRG_475:g.13756_13761del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+82_1002+87del MANE Select | ENSP00000355180.3:n.1002+82_1002+87del | |
| ENST00000361866.7:c.1002+82_1002+87del | ENSP00000355180.3:n.1002+82_1002+87del | |
| ENST00000612273.1:c.1002+82_1002+87del | ENSP00000483630.1:n.1002+82_1002+87del | |
| NM_001848.2:c.1002+82_1002+87del , LRG_475t1:c.1002+82_1002+87del | NP_001839.2:n.1002+82_1002+87del | |
| NM_001848.3:c.1002+82_1002+87del MANE Select | NP_001839.2:n.1002+82_1002+87del |