Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751829_74751840del , CM000677.2:g.74751829_74751840del | GRCh38 |
| NC_000015.9:g.75044170_75044181del , CM000677.1:g.75044170_75044181del | GRCh37 |
| NC_000015.8:g.72831223_72831234del | NCBI36 |
| NG_008431.1:g.34288_34299del | |
| NG_008431.2:g.34288_34299del | |
| NG_061543.1:g.7985_7996del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1017_1028del MANE Select | ENSP00000342007.4:p.Gln340_Ile343del | |
| ENST00000343932.4:c.1017_1028del | ENSP00000342007.4:p.Gln340_Ile343del | |
| NM_000761.4:c.1017_1028del | NP_000752.2:p.Gln340_Ile343del | |
| NM_000761.5:c.1017_1028del MANE Select | NP_000752.2:p.Gln340_Ile343del |