Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3121471_3121473del , CM000681.2:g.3121471_3121473del | GRCh38 |
| NC_000019.9:g.3121469_3121471del , CM000681.1:g.3121469_3121471del | GRCh37 |
| NC_000019.8:g.3072469_3072471del | NCBI36 |
| NG_033852.2:g.32062_32064del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002067.5:c.*292_*294del MANE Select | NP_002058.2:n.*292_*294del |
| ENST00000078429.9:c.*292_*294del MANE Select | ENSP00000078429.3:n.*292_*294del |
| NM_002067.4:c.*292_*294del | NP_002058.2:n.*292_*294del |
| ENST00000078429.8:c.*292_*294del | ENSP00000078429.3:n.*292_*294del |
| XR_936252.1:n.517-19_517-17del |