Linked Data
ClinVar Variation Id:
2889
dbSNP Id:
rs879255508
ERepo:
CA10575471/MONDO:0010119/011
PubMed:
PMID:2014236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44385708_44385720del , CM000679.2:g.44385708_44385720del | GRCh38 |
| NC_000017.10:g.42463076_42463088del , CM000679.1:g.42463076_42463088del | GRCh37 |
| NC_000017.9:g.39818602_39818614del | NCBI36 |
| NG_008331.1:g.8788_8800del , LRG_479:g.8788_8800del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.409-2_419del | ||
| ENST00000262407.5:c.409-2_419del | ||
| ENST00000592944.1:n.92_104del | ||
| NM_000419.3:c.409-2_419del , LRG_479t1:c.409-2_419del | ||
| XM_011524749.1:c.409-2_419del | ||
| XM_011524750.1:c.409-2_419del | ||
| NM_000419.4:c.409-2_419del | ||
| NM_000419.5:c.409-2_419del |