Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028781del , CM000666.2:g.52028781del | GRCh38 |
| NC_000004.11:g.52894947del , CM000666.1:g.52894947del | GRCh37 |
| NC_000004.10:g.52589704del | NCBI36 |
| NG_008891.1:g.14541del , LRG_204:g.14541del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.572del MANE Select | ENSP00000370839.6:p.Leu191CysfsTer5 | |
| ENST00000381431.9:c.572del | ENSP00000370839.5:p.Leu191CysfsTer5 | |
| ENST00000506357.5:c.655del | ||
| NM_000232.4:c.572del , LRG_204t1:c.572del | NP_000223.1:p.Leu191CysfsTer5 | |
| XM_006714049.2:c.275del | XP_006714112.1:p.Leu92CysfsTer5 | |
| XM_011534403.1:c.362del | XP_011532705.1:p.Leu121CysfsTer5 | |
| XM_011534404.1:c.275del | XP_011532706.1:p.Leu92CysfsTer5 | |
| NM_000232.5:c.572del MANE Select | NP_000223.1:p.Leu191CysfsTer5 |