Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807372_148807386del , CM000669.2:g.148807372_148807386del | GRCh38 |
| NC_000007.13:g.148504464_148504478del , CM000669.1:g.148504464_148504478del | GRCh37 |
| NC_000007.12:g.148135397_148135411del | NCBI36 |
| NG_032043.1:g.81964_81978del , LRG_531:g.81964_81978del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1412_*1426del | ENSP00000507503.1:n.*1412_*1426del | |
| NM_001203247.1:c.*260_*274del | NP_001190176.1:n.*260_*274del | |
| NM_001203248.1:c.*260_*274del | NP_001190177.1:n.*260_*274del | |
| NM_001203249.1:c.*260_*274del | NP_001190178.1:n.*260_*274del | |
| NM_004456.4:c.*260_*274del , LRG_531t1:c.*260_*274del | NP_004447.2:n.*260_*274del | |
| NM_152998.2:c.*260_*274del | NP_694543.1:n.*260_*274del | |
| XR_928101.1:n.515+2287_515+2301del | ||
| XR_928102.1:n.722+2287_722+2301del |