Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888310_20888316delinsTTCACAC , CM000684.2:g.20888310_20888316delinsTTCACAC | GRCh38 |
| NC_000022.10:g.21242598_21242604delinsTTCACAC , CM000684.1:g.21242598_21242604delinsTTCACAC | GRCh37 |
| NC_000022.9:g.19572598_19572604delinsTTCACAC | NCBI36 |
| NG_012152.1:g.34307_34313delinsTTCACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*474_*480delinsTTCACAC MANE Select | ENSP00000215730.6:n.*474_*480delinsTTCACAC | |
| ENST00000215730.11:c.*474_*480delinsTTCACAC | ENSP00000215730.6:n.*474_*480delinsTTCACAC | |
| NM_004782.3:c.*474_*480delinsTTCACAC | NP_004773.1:n.*474_*480delinsTTCACAC | |
| NM_004782.4:c.*474_*480delinsTTCACAC MANE Select | NP_004773.1:n.*474_*480delinsTTCACAC |