Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667284_31667292del , CM000683.2:g.31667284_31667292del | GRCh38 |
| NC_000021.8:g.33039597_33039605del , CM000683.1:g.33039597_33039605del | GRCh37 |
| NC_000021.7:g.31961468_31961476del | NCBI36 |
| NG_008689.1:g.12663_12671del , LRG_652:g.12663_12671del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.266_274del MANE Select | ENSP00000270142.7:p.Thr89_Asp91del | |
| ENST00000270142.10:c.266_274del | ENSP00000270142.6:p.Thr89_Asp91del | |
| ENST00000389995.4:c.209_217del | ENSP00000374645.4:p.Thr70_Asp72del | |
| ENST00000470944.1:n.1194_1202del | ||
| ENST00000476106.5:n.529_537del | ||
| NM_000454.4:c.266_274del , LRG_652t1:c.266_274del | NP_000445.1:p.Thr89_Asp91del | |
| NM_000454.5:c.266_274del MANE Select | NP_000445.1:p.Thr89_Asp91del |