Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215759667_215759675delinsTGGGCTCCA , CM000663.2:g.215759667_215759675delinsTGGGCTCCA | GRCh38 |
| NC_000001.10:g.215933009_215933017delinsTGGGCTCCA , CM000663.1:g.215933009_215933017delinsTGGGCTCCA | GRCh37 |
| NC_000001.9:g.213999632_213999640delinsTGGGCTCCA | NCBI36 |
| NG_009497.1:g.668722_668730delinsTGGAGCCCA | |
| NG_009497.2:g.668774_668782delinsTGGAGCCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11216_11224delinsTGGAGCCCA MANE Select | ENSP00000305941.3:p.Leu3739= | |
| ENST00000674083.1:c.11216_11224delinsTGGAGCCCA | ENSP00000501296.1:p.Leu3739= | |
| ENST00000307340.7:c.11216_11224delinsTGGAGCCCA | ENSP00000305941.3:p.Leu3739= | |
| NM_206933.2:c.11216_11224delinsTGGAGCCCA | NP_996816.2:p.Leu3739= | |
| NM_206933.3:c.11216_11224delinsTGGAGCCCA | NP_996816.2:p.Leu3739= | |
| NM_206933.4:c.11216_11224delinsTGGAGCCCA MANE Select | NP_996816.3:p.Leu3739= |