Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652628_171652631del , CM000663.2:g.171652628_171652631del | GRCh38 |
| NC_000001.10:g.171621768_171621771del , CM000663.1:g.171621768_171621771del | GRCh37 |
| NC_000001.9:g.169888391_169888394del | NCBI36 |
| NG_008859.1:g.5003_5006del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-20_-17del MANE Select | ENSP00000037502.5:n.-20_-17del | |
| ENST00000037502.10:c.-20_-17del | ENSP00000037502.5:n.-20_-17del | |
| ENST00000614688.1:c.-20_-17del | ENSP00000478680.1:n.-20_-17del | |
| NM_000261.1:c.-20_-17del | NP_000252.1:n.-20_-17del | |
| NM_000261.2:c.-20_-17del MANE Select | NP_000252.1:n.-20_-17del |