Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19966941_19966948delinsCAGCACAT , CM000670.2:g.19966941_19966948delinsCAGCACAT | GRCh38 |
| NC_000008.10:g.19824452_19824459delinsCAGCACAT , CM000670.1:g.19824452_19824459delinsCAGCACAT | GRCh37 |
| NC_000008.9:g.19868732_19868739delinsCAGCACAT | NCBI36 |
| NG_008855.1:g.32871_32878delinsCAGCACAT | |
| NG_008855.2:g.70225_70232delinsCAGCACAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.*1631_*1638delinsCAGCACAT MANE Select | ENSP00000497642.1:n.*1631_*1638delinsCAGC... | |
| ENST00000650478.1:c.1999_2006delinsCAGCACAT | ENSP00000497560.1:n.1999_2006delinsCAGCAC... | |
| ENST00000311322.8:c.*1631_*1638delinsCAGCACAT | ENSP00000309757.6:n.*1631_*1638delinsCAGC... | |
| NM_000237.2:c.*1631_*1638delinsCAGCACAT | NP_000228.1:n.*1631_*1638delinsCAGCACAT | |
| NM_000237.3:c.*1631_*1638delinsCAGCACAT MANE Select | NP_000228.1:n.*1631_*1638delinsCAGCACAT |