Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76991992_76992017delinsACGCGCAGGGGCAAGGCGCCCCGCGT , CM000675.2:g.76991992_76992017delinsACGCGCAGGGGCAAGGCGCCCCGCGT | GRCh38 |
| NC_000013.10:g.77566127_77566152delinsACGCGCAGGGGCAAGGCGCCCCGCGT , CM000675.1:g.77566127_77566152delinsACGCGCAGGGGCAAGGCGCCCCGCGT | GRCh37 |
| NC_000013.9:g.76464128_76464153delinsACGCGCAGGGGCAAGGCGCCCCGCGT | NCBI36 |
| NG_009064.1:g.5069_5094delinsACGCGCAGGGGCAAGGCGCCCCGCGT , LRG_692:g.5069_5094delinsACGCGCAGGGGCAAGGCGCCCCGCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-107_-82delinsACGCGCAGGGGCAAGGCGCCCCGCGT | ENSP00000490181.2:n.-107_-82delinsACGCGCAGGGGCAAGGCGCCCCGCGT | |
| ENST00000377453.7:c.41_66delinsACGCGCAGGGGCAAGGCGCCCCGCGT | ENSP00000366673.3:p.Asp14= | |
| NM_006493.2:c.41_66delinsACGCGCAGGGGCAAGGCGCCCCGCGT , LRG_692t1:c.41_66delinsACGCGCAGGGGCAAGGCGCCCCGCGT | NP_006484.1:p.Asp14= | |
| XM_011534917.1:c.41_66delinsACGCGCAGGGGCAAGGCGCCCCGCGT | XP_011533219.1:p.Asp14= |