Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74752115_74752116del , CM000677.2:g.74752115_74752116del | GRCh38 |
| NC_000015.9:g.75044456_75044457del , CM000677.1:g.75044456_75044457del | GRCh37 |
| NC_000015.8:g.72831509_72831510del | NCBI36 |
| NG_008431.1:g.34574_34575del | |
| NG_008431.2:g.34574_34575del | |
| NG_061543.1:g.8271_8272del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1043-9_1043-8del MANE Select | ENSP00000342007.4:n.1043-9_1043-8del | |
| ENST00000343932.4:c.1043-9_1043-8del | ENSP00000342007.4:n.1043-9_1043-8del | |
| NM_000761.4:c.1043-9_1043-8del | NP_000752.2:n.1043-9_1043-8del | |
| NM_000761.5:c.1043-9_1043-8del MANE Select | NP_000752.2:n.1043-9_1043-8del |