Linked Data
ClinVar Variation Id:
725190
ClinVar RCV Id:
RCV001428712
dbSNP Id:
rs1311886791
gnomAD v3:
17-7454522-TAAGA-T
gnomAD v4:
17-7454522-TAAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454527_7454530del , CM000679.2:g.7454527_7454530del | GRCh38 |
| NC_000017.10:g.7357846_7357849del , CM000679.1:g.7357846_7357849del | GRCh37 |
| NC_000017.9:g.7298570_7298573del | NCBI36 |
| NG_008026.1:g.14441_14444del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+7_1044+10del MANE Select | ENSP00000304290.2:n.1044+7_1044+10del | |
| ENST00000306071.6:c.1044+7_1044+10del | ENSP00000304290.2:n.1044+7_1044+10del | |
| ENST00000536404.6:c.828+7_828+10del | ENSP00000439209.2:n.828+7_828+10del | |
| ENST00000570557.5:c.707+7_707+10del | ||
| ENST00000573209.1:n.1988+7_1988+10del | ||
| ENST00000576360.1:c.681+7_681+10del | ENSP00000459092.1:n.681+7_681+10del | |
| NM_000747.2:c.1044+7_1044+10del | NP_000738.2:n.1044+7_1044+10del | |
| NM_000747.3:c.1044+7_1044+10del MANE Select | NP_000738.2:n.1044+7_1044+10del |