Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845342_21845344del , CM000685.2:g.21845342_21845344del | GRCh38 |
| NC_000023.10:g.21863460_21863462del , CM000685.1:g.21863460_21863462del | GRCh37 |
| NC_000023.9:g.21773381_21773383del | NCBI36 |
| NG_012797.1:g.10805_10807del | |
| NG_012797.2:g.10805_10807del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.396_398del MANE Select | ENSP00000368798.5:p.Ser133del | |
| ENST00000365779.2:c.396_398del | ENSP00000368796.1:p.Ser133del | |
| ENST00000379484.9:c.396_398del | ENSP00000368798.5:p.Ser133del | |
| ENST00000465888.1:n.495_497del | ||
| NM_015884.3:c.396_398del | NP_056968.1:p.Ser133del | |
| NM_015884.4:c.396_398del MANE Select | NP_056968.1:p.Ser133del |