Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127814198_127814199del , CM000671.2:g.127814198_127814199del | GRCh38 |
| NC_000009.11:g.130576477_130576478del , CM000671.1:g.130576477_130576478del | GRCh37 |
| NC_000009.10:g.129616298_129616299del | NCBI36 |
| NG_009551.1:g.45572_45573del , LRG_589:g.45572_45573del | |
| NG_023245.1:g.16324_16325del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-10_710-9del | |
| XM_005251864.2:c.1484-10_1484-9del | XP_005251921.1:n.1484-10_1484-9del |
| XM_005251864.4:c.1484-10_1484-9del | XP_005251921.1:n.1484-10_1484-9del |
| XM_017014565.2:c.1334-10_1334-9del | XP_016870054.1:n.1334-10_1334-9del |
| XR_242582.2:n.1381-10_1381-9del | |
| XR_242582.4:n.1379-10_1379-9del |