Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625413_22625460delinsAGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG , CM000673.2:g.22625413_22625460delinsAGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG | GRCh38 |
| NC_000011.9:g.22646959_22647006delinsAGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG , CM000673.1:g.22646959_22647006delinsAGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG | GRCh37 |
| NC_000011.8:g.22603535_22603582delinsAGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG | NCBI36 |
| NG_007425.1:g.5382_5429delinsCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCCT , LRG_527:g.5382_5429delinsCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.351_398delinsCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCCT MANE Select | ENSP00000330875.3:p.Pro117= | |
| ENST00000327470.4:c.351_398delinsCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCCT | ENSP00000330875.3:p.Pro117= | |
| NM_022725.3:c.351_398delinsCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCCT , LRG_527t1:c.351_398delinsCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCCT | NP_073562.1:p.Pro117= | |
| NM_022725.4:c.351_398delinsCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCCT MANE Select | NP_073562.1:p.Pro117= |