Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110428181_110428184del , CM000675.2:g.110428181_110428184del | GRCh38 |
| NC_000013.10:g.111080528_111080531del , CM000675.1:g.111080528_111080531del | GRCh37 |
| NC_000013.9:g.109878529_109878532del | NCBI36 |
| NG_032137.1:g.125898_125901del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.361-286_361-283del MANE Select | NP_001837.2:n.361-286_361-283del |
| ENST00000360467.7:c.361-286_361-283del MANE Select | ENSP00000353654.5:n.361-286_361-283del |
| NM_001846.2:c.361-286_361-283del | NP_001837.2:n.361-286_361-283del |
| NM_001846.3:c.361-286_361-283del | NP_001837.2:n.361-286_361-283del |
| ENST00000360467.5:c.361-286_361-283del | ENSP00000353654.5:n.361-286_361-283del |
| ENST00000619688.2:c.113-286_113-283del | |
| ENST00000650540.1:c.361-286_361-283del | ENSP00000497878.1:n.361-286_361-283del |