Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652682_171652686del , CM000663.2:g.171652682_171652686del | GRCh38 |
| NC_000001.10:g.171621822_171621826del , CM000663.1:g.171621822_171621826del | GRCh37 |
| NC_000001.9:g.169888445_169888449del | NCBI36 |
| NG_008859.1:g.4948_4952del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-75_-71del MANE Select | ENSP00000037502.5:n.-75_-71del | |
| NM_000261.2:c.-75_-71del MANE Select | NP_000252.1:n.-75_-71del |