Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50915816_50915820delinsCTAGT , CM000685.2:g.50915816_50915820delinsCTAGT | GRCh38 |
| NC_000023.10:g.50658816_50658820delinsCTAGT , CM000685.1:g.50658816_50658820delinsCTAGT | GRCh37 |
| NC_000023.9:g.50675556_50675560delinsCTAGT | NCBI36 |
| NG_012894.1:g.10033_10037delinsCTAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.388_392delinsCTAGT MANE Select | ENSP00000252677.3:p.Leu130= | |
| ENST00000252677.3:c.388_392delinsCTAGT | ENSP00000252677.3:p.Leu130= | |
| NM_005448.2:c.388_392delinsCTAGT MANE Select | NP_005439.2:p.Leu130= |