Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027750_17028737del , CM000663.2:g.17027750_17028737del | GRCh38 |
| NC_000001.10:g.17354245_17355232del , CM000663.1:g.17354245_17355232del | GRCh37 |
| NC_000001.9:g.17226832_17227819del | NCBI36 |
| NG_012340.1:g.30436_31423del , LRG_316:g.30436_31423del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.117_369+1del | ||
| ENST00000491274.6:c.246_498+1del | ||
| ENST00000375499.8:c.288_540+1del | ||
| ENST00000375499.7:c.288_540+1del | ||
| ENST00000475506.1:n.205_458del | ||
| ENST00000485515.5:n.276_474+1del | ||
| ENST00000491274.5:c.246_498+1del | ||
| NM_003000.2:c.288_540+1del , LRG_316t1:c.288_540+1del | ||
| NM_003000.3:c.288_540+1del |