Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651824_52651842delinsCGCTGCCACCTCCAAAGCT , CM000674.2:g.52651824_52651842delinsCGCTGCCACCTCCAAAGCT | GRCh38 |
| NC_000012.11:g.53045608_53045626delinsCGCTGCCACCTCCAAAGCT , CM000674.1:g.53045608_53045626delinsCGCTGCCACCTCCAAAGCT | GRCh37 |
| NC_000012.10:g.51331875_51331893delinsCGCTGCCACCTCCAAAGCT | NCBI36 |
| NG_008296.1:g.5334_5352delinsAGCTTTGGAGGTGGCAGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.301_319delinsAGCTTTGGAGGTGGCAGCG MANE Select | ENSP00000310861.3:p.Ser101= | |
| ENST00000309680.3:c.301_319delinsAGCTTTGGAGGTGGCAGCG | ENSP00000310861.3:p.Ser101= | |
| NM_000423.2:c.301_319delinsAGCTTTGGAGGTGGCAGCG | NP_000414.2:p.Ser101= | |
| NM_000423.3:c.301_319delinsAGCTTTGGAGGTGGCAGCG MANE Select | NP_000414.2:p.Ser101= |