Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49636479_49636480del , CM000681.2:g.49636479_49636480del | GRCh38 |
| NC_000019.9:g.50139736_50139737del , CM000681.1:g.50139736_50139737del | GRCh37 |
| NC_000019.8:g.54831548_54831549del | NCBI36 |
| NG_042222.1:g.8667_8668del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246792.4:c.453+142_453+143del MANE Select | ENSP00000246792.2:n.453+142_453+143del | |
| ENST00000246792.3:c.453+142_453+143del | ENSP00000246792.2:n.453+142_453+143del | |
| ENST00000601532.1:n.593+142_593+143del | ||
| NM_006270.3:c.453+142_453+143del | NP_006261.1:n.453+142_453+143del | |
| NM_006270.4:c.453+142_453+143del | NP_006261.1:n.453+142_453+143del | |
| NM_006270.5:c.453+142_453+143del MANE Select | NP_006261.1:n.453+142_453+143del |