Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675438_52675459delinsCACCTCCGGAGCCGTAGCTGCT , CM000674.2:g.52675438_52675459delinsCACCTCCGGAGCCGTAGCTGCT | GRCh38 |
| NC_000012.11:g.53069222_53069243delinsCACCTCCGGAGCCGTAGCTGCT , CM000674.1:g.53069222_53069243delinsCACCTCCGGAGCCGTAGCTGCT | GRCh37 |
| NC_000012.10:g.51355489_51355510delinsCACCTCCGGAGCCGTAGCTGCT | NCBI36 |
| NG_008364.1:g.9949_9970delinsAGCAGCTACGGCTCCGGAGGTG | |
| NG_008364.2:g.9949_9970delinsAGCAGCTACGGCTCCGGAGGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1669_1690delinsAGCAGCTACGGCTCCGGAGGTG MANE Select | ENSP00000252244.3:p.Ser557= | |
| NM_006121.3:c.1669_1690delinsAGCAGCTACGGCTCCGGAGGTG | NP_006112.3:p.Ser557= | |
| NM_006121.4:c.1669_1690delinsAGCAGCTACGGCTCCGGAGGTG MANE Select | NP_006112.3:p.Ser557= |