ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107785316_107788819del , CM000669.2:g.107785316_107788819del | GRCh38 |
| NC_000007.13:g.107425761_107429264del , CM000669.1:g.107425761_107429264del | GRCh37 |
| NC_000007.12:g.107212997_107216500del | NCBI36 |
| NG_008046.1:g.19418_22921del , LRG_683:g.19418_22921del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.735+708_971+1514del | ||
| ENST00000340010.9:c.735+708_971+1514del | ||
| ENST00000379083.7:c.*526+708_*762+1514del | ||
| NM_000111.2:c.735+708_971+1514del , LRG_683t1:c.735+708_971+1514del | ||
| XM_011515867.1:c.735+708_971+1514del | ||
| NM_000111.3:c.735+708_971+1514del |