Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990409_45990420del , CM000683.2:g.45990409_45990420del | GRCh38 |
| NC_000021.8:g.47410323_47410334del , CM000683.1:g.47410323_47410334del | GRCh37 |
| NC_000021.7:g.46234751_46234762del | NCBI36 |
| NG_008674.1:g.13661_13672del , LRG_475:g.13661_13672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.989_1000del MANE Select | ENSP00000355180.3:p.Val330_Lys334delinsGlu | |
| ENST00000361866.7:c.989_1000del | ENSP00000355180.3:p.Val330_Lys334delinsGlu | |
| ENST00000612273.1:c.989_1000del | ENSP00000483630.1:p.Val330_Lys334delinsGlu | |
| NM_001848.2:c.989_1000del , LRG_475t1:c.989_1000del | NP_001839.2:p.Val330_Lys334delinsGlu | |
| NM_001848.3:c.989_1000del MANE Select | NP_001839.2:p.Val330_Lys334delinsGlu |