Linked Data
ClinVar Variation Id:
550661
ClinVar RCV Id:
RCV000665463
dbSNP Id:
rs1555495965
MyVariant Identifiers:
chr16:g.8797949del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797949del , CM000678.2:g.8797949del | GRCh38 |
| NC_000016.9:g.8891806del , CM000678.1:g.8891806del | GRCh37 |
| NC_000016.8:g.8799307del | NCBI36 |
| NG_009209.1:g.5137del | |
| NG_033146.1:g.4701del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.66+1del | ||
| ENST00000682393.1:c.66+1del | ||
| ENST00000683094.1:c.66+1del | ||
| ENST00000683274.1:c.66+1del | ||
| ENST00000683435.1:c.66+1del | ||
| ENST00000268261.9:c.66+1del | ||
| ENST00000268261.8:c.66+1del | ||
| ENST00000562318.5:c.66+1del | ||
| ENST00000562448.1:n.107+1del | ||
| ENST00000564030.5:n.128+1del | ||
| ENST00000564069.1:c.37+1del | ||
| ENST00000565221.5:c.66+1del | ||
| ENST00000565896.5:c.66+1del | ||
| ENST00000566196.5:n.110+1del | ||
| ENST00000566540.5:c.66+1del | ||
| ENST00000566604.5:c.66+1del | ||
| ENST00000566983.5:c.-15-3850del | ENSP00000457956.1:n.-15-3850del | |
| ENST00000568602.5:c.66+1del | ||
| ENST00000569958.5:c.66+1del | ||
| ENST00000570076.5:c.66+1del | ||
| ENST00000570134.5:c.66+1del | ||
| NM_000303.2:c.66+1del | ||
| XM_005255372.3:c.66+1del | ||
| XM_005255373.3:c.-107+1del | ||
| XM_005255374.3:c.-107+1del | ||
| XM_011522538.1:c.66+1del | ||
| XM_005255374.4:c.-107+1del | ||
| NM_000303.3:c.66+1del |