Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780457_94780460delinsCTAA , CM000672.2:g.94780457_94780460delinsCTAA | GRCh38 |
| NC_000010.10:g.96540214_96540217delinsCTAA , CM000672.1:g.96540214_96540217delinsCTAA | GRCh37 |
| NC_000010.9:g.96530204_96530207delinsCTAA | NCBI36 |
| NG_008384.2:g.22752_22755delinsCTAA | |
| NG_008384.3:g.22777_22780delinsCTAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.482-42_482-39delinsCTAA MANE Select | ENSP00000360372.3:n.482-42_482-39delinsCT... | |
| ENST00000645461.1:n.1535-42_1535-39delinsCTAA | ||
| ENST00000371321.7:c.482-42_482-39delinsCTAA | ENSP00000360372.3:n.482-42_482-39delinsCT... | |
| ENST00000464755.1:c.1245-42_1245-39delinsCTAA | ENSP00000483243.1:n.1245-42_1245-39delins... | |
| NM_000769.2:c.482-42_482-39delinsCTAA | NP_000760.1:n.482-42_482-39delinsCTAA | |
| NM_000769.4:c.482-42_482-39delinsCTAA MANE Select | NP_000760.1:n.482-42_482-39delinsCTAA |