Linked Data
ClinVar Variation Id:
547999
dbSNP Id:
rs1553873247
gnomAD v4:
4-1938448-TAGAG-T
PubMed:
PMID:26785492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1938452_1938455del , CM000666.2:g.1938452_1938455del | GRCh38 |
| NC_000004.11:g.1940179_1940182del , CM000666.1:g.1940179_1940182del | GRCh37 |
| NC_000004.10:g.1909977_1909980del | NCBI36 |
| NG_009269.1:g.72057_72060del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398261.6:c.1676_1679del | ||
| ENST00000508803.6:c.1676_1679del | ||
| ENST00000512700.2:c.1676_1679del | ||
| ENST00000677559.1:c.1676_1679del | ||
| ENST00000678128.1:n.49_52del | ||
| ENST00000678714.1:c.*958_*961del | ||
| ENST00000312087.10:c.1676_1679del | ||
| ENST00000353275.9:c.1676_1679del | ||
| ENST00000382891.9:c.1676_1679del | ||
| ENST00000382892.6:c.1676_1679del | ||
| ENST00000382895.7:c.1676_1679del | ||
| ENST00000398261.5:c.1676_1679del | ||
| ENST00000420906.6:c.1676_1679del | ||
| ENST00000503128.5:c.1676_1679del | ||
| ENST00000508803.5:c.1676_1679del | ||
| ENST00000511904.1:c.457-1202_457-1199del | ENSP00000424482.1:n.457-1202_457-1199del | |
| ENST00000513726.5:n.160+3190_160+3193del | ||
| ENST00000514045.5:c.1676_1679del | ||
| NM_001042424.2:c.1676_1679del | ||
| NM_007331.1:c.1676_1679del | ||
| NM_133330.2:c.1676_1679del | ||
| NM_133331.2:c.1676_1679del | ||
| NM_133334.2:c.1676_1679del | ||
| NM_133335.3:c.1676_1679del | ||
| XM_005248001.3:c.1676_1679del | ||
| XM_005248002.1:c.1674+3190_1674+3193del | XP_005248059.1:n.1674+3190_1674+3193del | |
| XM_005248005.1:c.1676_1679del | ||
| XM_006713914.2:c.1676_1679del | ||
| XM_011513557.1:c.1676_1679del | ||
| XM_011513558.1:c.1676_1679del | ||
| XM_005248001.4:c.1676_1679del | ||
| XM_005248002.3:c.1674+3190_1674+3193del | XP_005248059.1:n.1674+3190_1674+3193del | |
| XM_005248005.3:c.1676_1679del | ||
| XM_006713914.3:c.1676_1679del | ||
| XM_011513557.2:c.1676_1679del | ||
| NM_001042424.3:c.1676_1679del | ||
| NM_007331.2:c.1676_1679del | ||
| NM_133330.3:c.1676_1679del | ||
| NM_133331.3:c.1676_1679del | ||
| NM_133335.4:c.1676_1679del |