Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26135201_26135205del , CM000664.2:g.26135201_26135205del | GRCh38 |
| NC_000002.11:g.26358070_26358074del , CM000664.1:g.26358070_26358074del | GRCh37 |
| NC_000002.10:g.26211574_26211578del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264710.5:c.*180_*184del MANE Select | ENSP00000264710.4:n.*180_*184del | |
| ENST00000264710.4:c.*180_*184del | ENSP00000264710.4:n.*180_*184del | |
| ENST00000495146.5:n.1146_1150del | ||
| NM_016131.4:c.*180_*184del | NP_057215.3:n.*180_*184del | |
| XM_024452565.1:c.*180_*184del | XP_024308333.1:n.*180_*184del | |
| NM_016131.5:c.*180_*184del MANE Select | NP_057215.3:n.*180_*184del |