Linked Data
ClinVar Variation Id:
102613
ClinVar Variation Id:
1708753
ClinVar RCV Id:
RCV002288037
dbSNP Id:
rs199475665
ERepo:
CA229461/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894918_102894920del , CM000674.2:g.102894918_102894920del | GRCh38 |
| NC_000012.11:g.103288696_103288698del , CM000674.1:g.103288696_103288698del | GRCh37 |
| NC_000012.10:g.101812826_101812828del | NCBI36 |
| NG_008690.1:g.27685_27687del | |
| NG_008690.2:g.68493_68495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.169_171del | ||
| ENST00000307000.7:c.154_156del | ||
| ENST00000546844.1:c.169_171del | ||
| ENST00000548677.2:n.256_258del | ||
| ENST00000548928.1:n.91_93del | ||
| ENST00000549111.5:n.265_267del | ||
| ENST00000550978.6:c.153_155del | ||
| ENST00000551337.5:c.169_171del | ||
| ENST00000551988.5:n.258_260del | ||
| ENST00000553106.5:c.169_171del | ||
| ENST00000635500.1:n.137_139del | ||
| NM_000277.1:c.169_171del | ||
| XM_011538422.1:c.169_171del | ||
| NM_000277.2:c.169_171del | ||
| NM_001354304.1:c.169_171del | ||
| XM_017019370.2:c.169_171del | ||
| NM_000277.3:c.169_171del | ||
| NM_001354304.2:c.169_171del |