Linked Data
ClinVar Variation Id:
1093288
ClinVar RCV Id:
RCV001413380
dbSNP Id:
rs2101521957
gnomAD v4:
1-17027873-TAAGAGGAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027878_17027886del , CM000663.2:g.17027878_17027886del | GRCh38 |
| NC_000001.10:g.17354373_17354381del , CM000663.1:g.17354373_17354381del | GRCh37 |
| NC_000001.9:g.17226960_17226968del | NCBI36 |
| NG_012340.1:g.31289_31297del , LRG_316:g.31289_31297del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.253-17_253-9del | ENSP00000481376.2:n.253-17_253-9del | |
| ENST00000491274.6:c.382-17_382-9del | ENSP00000480482.2:n.382-17_382-9del | |
| ENST00000375499.8:c.424-17_424-9del MANE Select | ENSP00000364649.3:n.424-17_424-9del | |
| ENST00000375499.7:c.424-17_424-9del | ENSP00000364649.3:n.424-17_424-9del | |
| ENST00000463045.2:c.253-17_253-9del | ENSP00000481376.1:n.253-17_253-9del | |
| ENST00000475506.1:n.341-17_341-9del | ||
| ENST00000485515.5:n.358-17_358-9del | ||
| ENST00000491274.5:c.382-17_382-9del | ENSP00000480482.1:n.382-17_382-9del | |
| NM_003000.2:c.424-17_424-9del , LRG_316t1:c.424-17_424-9del | NP_002991.2:n.424-17_424-9del | |
| NM_003000.3:c.424-17_424-9del MANE Select | NP_002991.2:n.424-17_424-9del |