Linked Data
ClinVar Variation Id:
252146
ClinVar RCV Id:
RCV000238524
dbSNP Id:
rs879255097
gnomAD v4:
19-11120232-AG-A
PubMed:
PMID:9409298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120234del , CM000681.2:g.11120234del | GRCh38 |
| NC_000019.9:g.11230910del , CM000681.1:g.11230910del | GRCh37 |
| NC_000019.8:g.11091910del | NCBI36 |
| NG_009060.1:g.35854del , LRG_274:g.35854del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2245+1del | ||
| ENST00000559340.2:c.*56+1del | ||
| ENST00000560467.2:c.1867+1del | ||
| ENST00000558518.6:c.1987+1del | ||
| ENST00000252444.9:c.2241+1del | ||
| ENST00000455727.6:c.1483+1del | ||
| ENST00000535915.5:c.1864+1del | ||
| ENST00000545707.5:c.1606+1del | ||
| ENST00000557933.5:c.1987+1del | ||
| ENST00000558013.5:c.1987+1del | ||
| ENST00000558518.5:c.1987+1del | ||
| ENST00000559340.1:c.568+1del | ||
| NM_000527.4:c.1987+1del , LRG_274t1:c.1987+1del | ||
| NM_001195798.1:c.1987+1del | ||
| NM_001195799.1:c.1864+1del | ||
| NM_001195800.1:c.1483+1del | ||
| NM_001195803.1:c.1606+1del | ||
| XM_011528010.1:c.1987+1del | ||
| XM_011528011.1:c.1606+1del | ||
| XR_244074.2:n.1997+1del | ||
| XM_011528010.2:c.1987+1del | ||
| XR_001753685.2:n.2104+1del | ||
| XR_001753686.2:n.1964+1del | ||
| NM_000527.5:c.1987+1del | ||
| NM_001195798.2:c.1987+1del | ||
| NM_001195799.2:c.1864+1del | ||
| NM_001195800.2:c.1483+1del | ||
| NM_001195803.2:c.1606+1del |