Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060665_94060667del , CM000663.2:g.94060665_94060667del | GRCh38 |
| NC_000001.10:g.94526221_94526223del , CM000663.1:g.94526221_94526223del | GRCh37 |
| NC_000001.9:g.94298809_94298811del | NCBI36 |
| NG_009073.1:g.65485_65487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2032_2034del MANE Select | ENSP00000359245.3:p.Lys678del | |
| ENST00000649773.1:c.2032_2034del | ENSP00000496882.1:p.Lys678del | |
| ENST00000370225.3:c.2032_2034del | ENSP00000359245.3:p.Lys678del | |
| ENST00000472033.1:n.152_154del | ||
| ENST00000536513.5:c.-65+2509_-65+2511del | ENSP00000439707.2:n.-65+2509_-65+2511del | |
| NM_000350.2:c.2032_2034del | NP_000341.2:p.Lys678del | |
| NM_000350.3:c.2032_2034del MANE Select | NP_000341.2:p.Lys678del |