Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251855_193251856del , CM000663.2:g.193251855_193251856del | GRCh38 |
| NC_000001.10:g.193220985_193220986del , CM000663.1:g.193220985_193220986del | GRCh37 |
| NC_000001.9:g.191487608_191487609del | NCBI36 |
| NG_012691.1:g.134898_134899del , LRG_507:g.134898_134899del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1143_*1144del MANE Select | ENSP00000356405.4:n.*1143_*1144del | |
| ENST00000635846.1:c.*1143_*1144del | ENSP00000490035.1:n.*1143_*1144del | |
| ENST00000643006.1:c.*1649_*1650del | ENSP00000496633.1:n.*1649_*1650del | |
| ENST00000367435.3:c.*1143_*1144del | ENSP00000356405.3:n.*1143_*1144del | |
| NM_024529.4:c.*1143_*1144del , LRG_507t1:c.*1143_*1144del | NP_078805.3:n.*1143_*1144del | |
| NM_024529.5:c.*1143_*1144del MANE Select | NP_078805.3:n.*1143_*1144del |