Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114297_140114329del , CM000667.2:g.140114297_140114329del | GRCh38 |
| NC_000005.9:g.139493882_139493914del , CM000667.1:g.139493882_139493914del | GRCh37 |
| NC_000005.8:g.139474066_139474098del | NCBI36 |
| NG_041813.1:g.5175_5207del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005859.5:c.116_148del MANE Select | NP_005850.1:p.Gly39_Gly49del |
| ENST00000331327.5:c.116_148del MANE Select | ENSP00000332706.3:p.Gly39_Gly49del |
| NM_005859.4:c.116_148del | NP_005850.1:p.Gly39_Gly49del |
| ENST00000331327.4:c.116_148del | ENSP00000332706.3:p.Gly39_Gly49del |
| ENST00000505703.2:c.116_148del | ENSP00000498560.1:p.Gly39_Gly49del |
| ENST00000651386.1:c.116_148del | ENSP00000499133.1:p.Gly39_Gly49del |