Linked Data
ClinVar Variation Id:
360727
ClinVar RCV Id:
RCV000392879
dbSNP Id:
rs886062444
gnomAD v2:
7-75615943-ATCC-A
gnomAD v3:
7-75986625-ATCC-A
gnomAD v4:
7-75986625-ATCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75986631_75986633del , CM000669.2:g.75986631_75986633del | GRCh38 |
| NC_000007.13:g.75615949_75615951del , CM000669.1:g.75615949_75615951del | GRCh37 |
| NC_000007.12:g.75453885_75453887del | NCBI36 |
| NG_008930.1:g.76530_76532del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475509.2:c.*150_*152del | ENSP00000516446.1:n.*150_*152del | |
| ENST00000706544.1:c.*150_*152del | ENSP00000516442.1:n.*150_*152del | |
| ENST00000706545.1:c.*150_*152del | ENSP00000516443.1:n.*150_*152del | |
| ENST00000706546.1:c.*150_*152del | ENSP00000516444.1:n.*150_*152del | |
| ENST00000706547.1:c.*150_*152del | ENSP00000516445.1:n.*150_*152del | |
| ENST00000461988.6:c.*150_*152del MANE Select | ENSP00000419970.1:n.*150_*152del | |
| ENST00000394893.5:c.*386_*388del | ENSP00000378355.1:n.*386_*388del | |
| ENST00000439269.1:c.*150_*152del | ENSP00000412490.1:n.*150_*152del | |
| ENST00000454934.5:c.*1498_*1500del | ENSP00000414263.1:n.*1498_*1500del | |
| ENST00000461988.5:c.*150_*152del | ENSP00000419970.1:n.*150_*152del | |
| ENST00000493973.1:n.804_806del | ||
| NM_000941.2:c.*150_*152del | NP_000932.3:n.*150_*152del | |
| NM_000941.3:c.*150_*152del | NP_000932.3:n.*150_*152del | |
| NM_001367562.1:c.*150_*152del | NP_001354491.1:n.*150_*152del | |
| NM_001382655.1:c.*150_*152del | NP_001369584.1:n.*150_*152del | |
| NM_001382657.1:c.*150_*152del | NP_001369586.1:n.*150_*152del | |
| NM_001382658.1:c.*150_*152del | NP_001369587.1:n.*150_*152del | |
| NM_001382659.1:c.*150_*152del | NP_001369588.1:n.*150_*152del | |
| NM_001382662.1:c.*150_*152del | NP_001369591.1:n.*150_*152del | |
| NM_001367562.3:c.*150_*152del | NP_001354491.2:n.*150_*152del | |
| NM_001382655.3:c.*150_*152del | NP_001369584.2:n.*150_*152del | |
| NM_001382657.2:c.*150_*152del | NP_001369586.2:n.*150_*152del | |
| NM_001382658.3:c.*150_*152del | NP_001369587.2:n.*150_*152del | |
| NM_001382659.3:c.*150_*152del | NP_001369588.2:n.*150_*152del | |
| NM_001382662.3:c.*150_*152del | NP_001369591.2:n.*150_*152del | |
| NM_001395413.1:c.*150_*152del MANE Select | NP_001382342.1:n.*150_*152del |