Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533889_7533892del , CM000681.2:g.7533889_7533892del | GRCh38 |
| NC_000019.9:g.7598775_7598778del , CM000681.1:g.7598775_7598778del | GRCh37 |
| NC_000019.8:g.7504775_7504778del | NCBI36 |
| NG_013374.1:g.4738_4741del | |
| NG_015806.1:g.16280_16283del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*94_*97del MANE Select | ENSP00000264079.5:n.*94_*97del | |
| ENST00000264079.10:c.*94_*97del | ENSP00000264079.5:n.*94_*97del | |
| ENST00000394321.9:n.2152_2155del | ||
| ENST00000599334.1:c.565_568del | ||
| ENST00000601870.1:c.169+21_169+24del | ||
| ENST00000602227.1:n.391_394del | ||
| NM_020533.2:c.*94_*97del | NP_065394.1:n.*94_*97del | |
| NM_020533.3:c.*94_*97del MANE Select | NP_065394.1:n.*94_*97del |