Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812725_218812727del , CM000664.2:g.218812725_218812727del | GRCh38 |
| NC_000002.11:g.219677448_219677450del , CM000664.1:g.219677448_219677450del | GRCh37 |
| NC_000002.10:g.219385692_219385694del | NCBI36 |
| NG_007959.1:g.35977_35979del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.820_822del MANE Select | ENSP00000258415.4:p.Gly274del | |
| ENST00000258415.8:c.820_822del | ENSP00000258415.4:p.Gly274del | |
| ENST00000411688.1:c.538_540del | ENSP00000392671.1:p.Gly180del | |
| ENST00000445971.1:c.*281_*283del | ENSP00000404945.1:n.*281_*283del | |
| ENST00000466602.1:n.768_770del | ||
| ENST00000494263.5:n.1254_1256del | ||
| NM_000784.3:c.820_822del | NP_000775.1:p.Gly274del | |
| XM_017003488.2:c.400_402del | XP_016858977.1:p.Gly134del | |
| NM_000784.4:c.820_822del MANE Select | NP_000775.1:p.Gly274del |