Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127817284_127819940del , CM000671.2:g.127817284_127819940del | GRCh38 |
| NC_000009.11:g.130579563_130582219del , CM000671.1:g.130579563_130582219del | GRCh37 |
| NC_000009.10:g.129619384_129622040del | NCBI36 |
| NG_009551.1:g.39833_42489del , LRG_589:g.39833_42489del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.690_1141-77del | ||
| ENST00000373203.9:c.1236_1687-77del | ||
| ENST00000344849.4:c.1236_1687-77del | ||
| ENST00000373203.8:c.1236_1687-77del | ||
| ENST00000480266.5:c.690_1141-77del | ||
| NM_000118.3:c.1236_1687-77del , LRG_589t1:c.1236_1687-77del | ||
| NM_001114753.2:c.1236_1687-77del , LRG_589t2:c.1236_1687-77del | ||
| NM_001278138.1:c.690_1141-77del | ||
| NR_136302.1:n.1219_1568+1229del | ||
| NM_001114753.3:c.1236_1687-77del | ||
| NM_001278138.2:c.690_1141-77del |