Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.44540944_44540950del , CM000685.2:g.44540944_44540950del | GRCh38 |
| NC_000023.10:g.44400190_44400196del , CM000685.1:g.44400190_44400196del | GRCh37 |
| NC_000023.9:g.44285134_44285140del | NCBI36 |
| NG_021288.1:g.7026_7032del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378045.5:c.185+995_185+1001del MANE Select | ENSP00000367284.4:n.185+995_185+1001del | |
| ENST00000378045.4:c.185+995_185+1001del | ENSP00000367284.4:n.185+995_185+1001del | |
| ENST00000483115.1:n.360+995_360+1001del | ||
| NM_173794.3:c.185+995_185+1001del | NP_776155.1:n.185+995_185+1001del | |
| NM_173794.4:c.185+995_185+1001del MANE Select | NP_776155.1:n.185+995_185+1001del |