Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401641_94401646delinsTAGCCA , CM000669.2:g.94401641_94401646delinsTAGCCA | GRCh38 |
| NC_000007.13:g.94030953_94030958delinsTAGCCA , CM000669.1:g.94030953_94030958delinsTAGCCA | GRCh37 |
| NC_000007.12:g.93868889_93868894delinsTAGCCA | NCBI36 |
| NG_007405.1:g.12081_12086delinsTAGCCA , LRG_2:g.12081_12086delinsTAGCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+21_279+26delinsTAGCCA MANE Select | ENSP00000297268.6:n.279+21_279+26delinsTAGCCA | |
| ENST00000297268.10:c.279+21_279+26delinsTAGCCA | ENSP00000297268.6:n.279+21_279+26delinsTAGCCA | |
| ENST00000620463.1:c.273+21_273+26delinsTAGCCA | ENSP00000477719.1:n.273+21_273+26delinsTAGCCA | |
| NM_000089.3:c.279+21_279+26delinsTAGCCA , LRG_2t1:c.279+21_279+26delinsTAGCCA | NP_000080.2:n.279+21_279+26delinsTAGCCA | |
| NM_000089.4:c.279+21_279+26delinsTAGCCA MANE Select | NP_000080.2:n.279+21_279+26delinsTAGCCA |