Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370454_34370456del , CM000683.2:g.34370454_34370456del | GRCh38 |
| NC_000021.8:g.35742753_35742755del , CM000683.1:g.35742753_35742755del | GRCh37 |
| NC_000021.7:g.34664623_34664625del | NCBI36 |
| NG_008804.1:g.11431_11433del , LRG_291:g.11431_11433del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.-12-13_-12-11del MANE Select | ENSP00000290310.2:n.-12-13_-12-11del | |
| ENST00000290310.3:c.-12-13_-12-11del | ENSP00000290310.2:n.-12-13_-12-11del | |
| NM_172201.1:c.-12-13_-12-11del , LRG_291t1:c.-12-13_-12-11del | NP_751951.1:n.-12-13_-12-11del | |
| XR_937683.1:n.870_872del | ||
| XR_937684.1:n.870_872del | ||
| XR_001755012.2:n.991_993del | ||
| XR_001755013.2:n.870_872del | ||
| XR_937683.2:n.870_872del | ||
| NM_172201.2:c.-12-13_-12-11del MANE Select | NP_751951.1:n.-12-13_-12-11del |