Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38696938_38696945del , CM000668.2:g.38696938_38696945del | GRCh38 |
| NC_000006.11:g.38664714_38664721del , CM000668.1:g.38664714_38664721del | GRCh37 |
| NC_000006.10:g.38772692_38772699del | NCBI36 |
| NG_012074.1:g.11233_11240del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.84+6027_84+6034del MANE Select | ENSP00000362463.3:n.84+6027_84+6034del | |
| ENST00000373365.4:c.84+6027_84+6034del | ENSP00000362463.3:n.84+6027_84+6034del | |
| NM_006708.2:c.84+6027_84+6034del | NP_006699.2:n.84+6027_84+6034del | |
| NM_006708.3:c.84+6027_84+6034del MANE Select | NP_006699.2:n.84+6027_84+6034del |