Linked Data
ClinVar Variation Id:
527863
ClinVar RCV Id:
RCV000632883
dbSNP Id:
rs1555204492
gnomAD v4:
12-102852945-TGCAAGCTGGGATGAAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852947_102852963del , CM000674.2:g.102852947_102852963del | GRCh38 |
| NC_000012.11:g.103246725_103246741del , CM000674.1:g.103246725_103246741del | GRCh37 |
| NC_000012.10:g.101770855_101770871del | NCBI36 |
| NG_008690.1:g.69641_69657del | |
| NG_008690.2:g.110449_110465del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.707-12_711del | ||
| ENST00000307000.7:c.692-12_696del | ||
| ENST00000549247.6:n.454_470del | ||
| ENST00000553106.5:c.707-12_711del | ||
| NM_000277.1:c.707-12_711del | ||
| XM_011538422.1:c.707-12_711del | ||
| NM_000277.2:c.707-12_711del | ||
| NM_001354304.1:c.707-12_711del | ||
| NM_000277.3:c.707-12_711del | ||
| NM_001354304.2:c.707-12_711del |