Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013352_25013381delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA , CM000685.2:g.25013352_25013381delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA | GRCh38 |
| NC_000023.10:g.25031469_25031498delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA , CM000685.1:g.25031469_25031498delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA | GRCh37 |
| NC_000023.9:g.24941390_24941419delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA | NCBI36 |
| NG_008281.1:g.7568_7597delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.614_643delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC MANE Select | ENSP00000368332.4:p.Leu205= | |
| ENST00000379044.4:c.614_643delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC | ENSP00000368332.4:p.Leu205= | |
| NM_139058.2:c.614_643delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC | NP_620689.1:p.Leu205= | |
| NM_139058.3:c.614_643delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC MANE Select | NP_620689.1:p.Leu205= |