Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26156826_26156848del , CM000668.2:g.26156826_26156848del | GRCh38 |
| NC_000006.11:g.26157054_26157076del , CM000668.1:g.26157054_26157076del | GRCh37 |
| NC_000006.10:g.26265033_26265055del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005321.3:c.436_458del MANE Select | NP_005312.1:p.Thr146AspfsTer? |
| ENST00000304218.6:c.436_458del MANE Select | ENSP00000307705.4:p.Thr146AspfsTer? |
| NM_005321.2:c.436_458del | NP_005312.1:p.Thr146AspfsTer? |
| ENST00000304218.5:c.436_458del | ENSP00000307705.3:p.Thr146AspfsTer? |