Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96143583_96143589del , CM000664.2:g.96143583_96143589del | GRCh38 |
| NC_000002.11:g.96809322_96809328del , CM000664.1:g.96809322_96809328del | GRCh37 |
| NC_000002.10:g.96173049_96173055del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288943.5:c.*234_*240del MANE Select | ENSP00000288943.4:n.*234_*240del | |
| ENST00000288943.4:c.*234_*240del | ENSP00000288943.4:n.*234_*240del | |
| NM_004418.3:c.*234_*240del | NP_004409.1:n.*234_*240del | |
| XM_017003546.1:c.*234_*240del | XP_016859035.1:n.*234_*240del | |
| NM_004418.4:c.*234_*240del MANE Select | NP_004409.1:n.*234_*240del |