Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838652_182838666delinsACATAATAGCTACCC , CM000664.2:g.182838652_182838666delinsACATAATAGCTACCC | GRCh38 |
| NC_000002.11:g.183703380_183703394delinsACATAATAGCTACCC , CM000664.1:g.183703380_183703394delinsACATAATAGCTACCC | GRCh37 |
| NC_000002.10:g.183411625_183411639delinsACATAATAGCTACCC | NCBI36 |
| NG_017197.1:g.33105_33119delinsGGGTAGCTATTATGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.593-53_593-39delinsGGGTAGCTATTATGT MANE Select | ENSP00000295113.4:n.593-53_593-39delinsGGGTAGCTATTATGT | |
| ENST00000295113.4:c.593-53_593-39delinsGGGTAGCTATTATGT | ENSP00000295113.4:n.593-53_593-39delinsGGGTAGCTATTATGT | |
| NM_001463.3:c.593-53_593-39delinsGGGTAGCTATTATGT | NP_001454.2:n.593-53_593-39delinsGGGTAGCTATTATGT | |
| NM_001463.4:c.593-53_593-39delinsGGGTAGCTATTATGT MANE Select | NP_001454.2:n.593-53_593-39delinsGGGTAGCTATTATGT |