Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188529_50188530del , CM000679.2:g.50188529_50188530del | GRCh38 |
| NC_000017.10:g.48265890_48265891del , CM000679.1:g.48265890_48265891del | GRCh37 |
| NC_000017.9:g.45620889_45620890del | NCBI36 |
| NG_007400.1:g.18111_18112del , LRG_1:g.18111_18112del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.3207+1_3207+2del | ||
| ENST00000225964.9:c.3207+1_3207+2del | ||
| ENST00000486572.1:n.26_27del | ||
| ENST00000511732.1:n.152_153del | ||
| NM_000088.3:c.3207+1_3207+2del , LRG_1t1:c.3207+1_3207+2del | ||
| XM_005257058.3:c.2937+1_2937+2del | ||
| XM_005257059.3:c.2289+1_2289+2del | ||
| XM_011524341.1:c.3009+1_3009+2del | ||
| XM_005257058.4:c.2937+1_2937+2del | ||
| XM_005257059.4:c.2289+1_2289+2del | ||
| NM_000088.4:c.3207+1_3207+2del |