Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869159_240869162delinsTGCATGCAGAT , CM000664.2:g.240869159_240869162delinsTGCATGCAGAT | GRCh38 |
| NC_000002.11:g.241808576_241808579delinsTGCATGCAGAT , CM000664.1:g.241808576_241808579delinsTGCATGCAGAT | GRCh37 |
| NC_000002.10:g.241457249_241457252delinsTGCATGCAGAT | NCBI36 |
| NG_008005.1:g.5415_5418delinsTGCATGCAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.166-11_166-8delinsTGCATGCAGAT MANE Select | ENSP00000302620.3:n.166-11_166-8delinsTGCATGCAGAT | |
| ENST00000307503.3:c.166-11_166-8delinsTGCATGCAGAT | ENSP00000302620.3:n.166-11_166-8delinsTGCATGCAGAT | |
| ENST00000472436.1:n.186-11_186-8delinsTGCATGCAGAT | ||
| NM_000030.2:c.166-11_166-8delinsTGCATGCAGAT | NP_000021.1:n.166-11_166-8delinsTGCATGCAGAT | |
| XR_924060.1:n.405+1071_405+1074delinsATCTGCATGCA | ||
| NM_000030.3:c.166-11_166-8delinsTGCATGCAGAT MANE Select | NP_000021.1:n.166-11_166-8delinsTGCATGCAGAT |