Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24146066_24146071delinsCAATAT , CM000668.2:g.24146066_24146071delinsCAATAT | GRCh38 |
| NC_000006.11:g.24146294_24146299delinsCAATAT , CM000668.1:g.24146294_24146299delinsCAATAT | GRCh37 |
| NC_000006.10:g.24254273_24254278delinsCAATAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.*120_*125delinsCAATAT MANE Select | ENSP00000367752.4:n.*120_*125delinsCAATAT | |
| ENST00000378478.5:c.*120_*125delinsCAATAT | ENSP00000367739.2:n.*120_*125delinsCAATAT | |
| ENST00000378491.8:c.*120_*125delinsCAATAT | ENSP00000367752.4:n.*120_*125delinsCAATAT | |
| ENST00000468195.2:n.257-8705_257-8700delinsCAATAT | ||
| NM_080723.4:c.*120_*125delinsCAATAT | NP_542454.3:n.*120_*125delinsCAATAT | |
| NM_080723.5:c.*120_*125delinsCAATAT MANE Select | NP_542454.3:n.*120_*125delinsCAATAT |