Linked Data
ClinVar Variation Id:
328247
ClinVar RCV Id:
RCV000321618
dbSNP Id:
rs142990629
gnomAD v2:
19-1228412-AAAGCTTGGG-A
gnomAD v3:
19-1228413-AAAGCTTGGG-A
gnomAD v4:
19-1228413-AAAGCTTGGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1228422_1228430del , CM000681.2:g.1228422_1228430del | GRCh38 |
| NC_000019.9:g.1228421_1228429del , CM000681.1:g.1228421_1228429del | GRCh37 |
| NC_000019.8:g.1179421_1179429del | NCBI36 |
| NG_007460.2:g.44016_44024del , LRG_319:g.44016_44024del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585748.3:c.*846_*854del (STK11) | ENSP00000477641.2:n.*846_*854del | |
| ENST00000585851.2:c.*846_*854del (STK11) | ENSP00000467912.2:n.*846_*854del | |
| ENST00000650044.2:c.*757_*765del (CBARP) MANE Select | ENSP00000497208.1:n.*757_*765del | |
| ENST00000326873.12:c.*846_*854del (STK11) MANE Select | ENSP00000324856.6:n.*846_*854del | |
| ENST00000648750.1:c.*2578_*2586del (CBARP) | ENSP00000496899.1:n.*2578_*2586del | |
| ENST00000650044.1:c.*757_*765del (CBARP) | ENSP00000497208.1:n.*757_*765del | |
| ENST00000326873.11:c.*846_*854del (STK11) | ENSP00000324856.6:n.*846_*854del | |
| ENST00000590083.5:c.*2471_*2479del (CBARP) | ENSP00000465260.1:n.*2471_*2479del | |
| NM_000455.4:c.*846_*854del , LRG_319t1:c.*846_*854del (STK11) | NP_000446.1:n.*846_*854del | |
| XM_005259617.1:c.*340_*348del (STK11) | XP_005259674.1:n.*340_*348del | |
| XM_011528209.1:c.*340_*348del (STK11) | XP_011526511.1:n.*340_*348del | |
| XM_005259617.3:c.*340_*348del (STK11) | XP_005259674.1:n.*340_*348del | |
| XM_017026555.1:c.*757_*765del (CBARP) | XP_016882044.1:n.*757_*765del | |
| XM_017026556.1:c.*757_*765del (CBARP) | XP_016882045.1:n.*757_*765del | |
| XM_017026557.1:c.*757_*765del (CBARP) | XP_016882046.1:n.*757_*765del | |
| XM_017026558.1:c.*757_*765del (CBARP) | XP_016882047.1:n.*757_*765del | |
| XR_001753738.2:n.2954_2962del (STK11) | ||
| XR_001753740.2:n.2924_2932del (STK11) | ||
| NM_000455.5:c.*846_*854del (STK11) MANE Select | NP_000446.1:n.*846_*854del | |
| NM_152769.3:c.*2471_*2479del (CBARP) | NP_689982.3:n.*2471_*2479del | |
| NM_001393918.1:c.*757_*765del (CBARP) MANE Select | NP_001380847.1:n.*757_*765del |