Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26135138_26135139del , CM000664.2:g.26135138_26135139del | GRCh38 |
| NC_000002.11:g.26358007_26358008del , CM000664.1:g.26358007_26358008del | GRCh37 |
| NC_000002.10:g.26211511_26211512del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264710.5:c.*117_*118del MANE Select | ENSP00000264710.4:n.*117_*118del | |
| ENST00000264710.4:c.*117_*118del | ENSP00000264710.4:n.*117_*118del | |
| ENST00000495146.5:n.1083_1084del | ||
| NM_016131.4:c.*117_*118del | NP_057215.3:n.*117_*118del | |
| XM_024452565.1:c.*117_*118del | XP_024308333.1:n.*117_*118del | |
| NM_016131.5:c.*117_*118del MANE Select | NP_057215.3:n.*117_*118del |