Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990391_45990399del , CM000683.2:g.45990391_45990399del | GRCh38 |
| NC_000021.8:g.47410305_47410313del , CM000683.1:g.47410305_47410313del | GRCh37 |
| NC_000021.7:g.46234733_46234741del | NCBI36 |
| NG_008674.1:g.13643_13651del , LRG_475:g.13643_13651del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.971_979del MANE Select | ENSP00000355180.3:p.Lys324_Gly326del | |
| ENST00000361866.7:c.971_979del | ENSP00000355180.3:p.Lys324_Gly326del | |
| ENST00000612273.1:c.971_979del | ENSP00000483630.1:p.Lys324_Gly326del | |
| NM_001848.2:c.971_979del , LRG_475t1:c.971_979del | NP_001839.2:p.Lys324_Gly326del | |
| NM_001848.3:c.971_979del MANE Select | NP_001839.2:p.Lys324_Gly326del |