Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127814193_127814196del , CM000671.2:g.127814193_127814196del | GRCh38 |
| NC_000009.11:g.130576472_130576475del , CM000671.1:g.130576472_130576475del | GRCh37 |
| NC_000009.10:g.129616293_129616296del | NCBI36 |
| NG_009551.1:g.45582_45585del , LRG_589:g.45582_45585del | |
| NG_023245.1:g.16319_16322del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-15_710-12del | |
| XM_005251864.2:c.1484-15_1484-12del | XP_005251921.1:n.1484-15_1484-12del |
| XM_005251864.4:c.1484-15_1484-12del | XP_005251921.1:n.1484-15_1484-12del |
| XM_017014565.2:c.1334-15_1334-12del | XP_016870054.1:n.1334-15_1334-12del |
| XR_242582.2:n.1381-15_1381-12del | |
| XR_242582.4:n.1379-15_1379-12del |