ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459671_48459692del , CM000675.2:g.48459671_48459692del | GRCh38 |
| NC_000013.10:g.49033807_49033828del , CM000675.1:g.49033807_49033828del | GRCh37 |
| NC_000013.9:g.47931808_47931829del | NCBI36 |
| NG_009009.1:g.160925_160946del , LRG_517:g.160925_160946del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1961-17_1965del | ||
| ENST00000643064.1:c.194+78228_194+78249del | ||
| ENST00000650461.1:c.1961-17_1965del | ||
| ENST00000267163.4:c.1961-17_1965del | ||
| NM_000321.2:c.1961-17_1965del , LRG_517t1:c.1961-17_1965del | ||
| XM_011535171.1:c.1700-17_1704del | ||
| XM_011535171.2:c.1700-17_1704del | ||
| NM_000321.3:c.1961-17_1965del |