Linked Data
dbSNP Id:
rs998164300
gnomAD v2:
19-35824032-TCTGGGAC-T
gnomAD v3:
19-35333129-TCTGGGAC-T
gnomAD v4:
19-35333129-TCTGGGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35333134_35333140del , CM000681.2:g.35333134_35333140del | GRCh38 |
| NC_000019.9:g.35824037_35824043del , CM000681.1:g.35824037_35824043del | GRCh37 |
| NC_000019.8:g.40515877_40515883del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000085219.10:c.412+210_412+216del MANE Select | ENSP00000085219.4:n.412+210_412+216del | |
| ENST00000085219.9:c.412+210_412+216del | ENSP00000085219.4:n.412+210_412+216del | |
| ENST00000270311.10:c.412+210_412+216del | ENSP00000270311.7:n.412+210_412+216del | |
| ENST00000341773.10:c.412+210_412+216del | ENSP00000339349.6:n.412+210_412+216del | |
| ENST00000419549.6:c.9+210_9+216del | ENSP00000403822.2:n.9+210_9+216del | |
| ENST00000536635.6:c.412+210_412+216del | ENSP00000442279.1:n.412+210_412+216del | |
| ENST00000544992.6:c.412+210_412+216del | ENSP00000441237.1:n.412+210_412+216del | |
| ENST00000593867.5:c.412+210_412+216del | ENSP00000471972.1:n.412+210_412+216del | |
| ENST00000594250.5:c.412+210_412+216del | ENSP00000469984.1:n.412+210_412+216del | |
| ENST00000594349.1:c.379+210_379+216del | ENSP00000470724.1:n.379+210_379+216del | |
| ENST00000596492.5:n.950+210_950+216del | ||
| ENST00000597433.1:n.430+210_430+216del | ||
| ENST00000597916.5:c.406+210_406+216del | ENSP00000472762.1:n.406+210_406+216del | |
| ENST00000598028.5:n.45-2902_45-2896del | ||
| ENST00000598138.5:n.442+210_442+216del | ||
| ENST00000598815.5:n.44+3904_44+3910del | ||
| ENST00000599717.5:c.*264+210_*264+216del | ENSP00000470681.1:n.*264+210_*264+216del | |
| ENST00000599811.5:c.412+210_412+216del | ENSP00000469523.1:n.412+210_412+216del | |
| ENST00000600131.5:c.406+210_406+216del | ENSP00000469503.1:n.406+210_406+216del | |
| ENST00000600424.5:c.406+210_406+216del | ENSP00000471399.1:n.406+210_406+216del | |
| ENST00000600655.1:n.36+3904_36+3910del | ||
| ENST00000600905.5:n.375+210_375+216del | ||
| ENST00000601329.5:n.43+3904_43+3910del | ||
| ENST00000601414.5:n.432+210_432+216del | ||
| ENST00000601732.5:n.316+210_316+216del | ||
| ENST00000601769.5:c.406+210_406+216del | ENSP00000470193.1:n.406+210_406+216del | |
| NM_001185099.1:c.412+210_412+216del | NP_001172028.1:n.412+210_412+216del | |
| NM_001185100.1:c.412+210_412+216del | NP_001172029.1:n.412+210_412+216del | |
| NM_001185101.1:c.412+210_412+216del | NP_001172030.1:n.412+210_412+216del | |
| NM_001278417.1:c.9+210_9+216del | NP_001265346.1:n.9+210_9+216del | |
| NM_001771.3:c.412+210_412+216del | NP_001762.2:n.412+210_412+216del | |
| NM_001771.4:c.412+210_412+216del MANE Select | NP_001762.2:n.412+210_412+216del | |
| NM_001185099.2:c.412+210_412+216del | NP_001172028.1:n.412+210_412+216del | |
| NM_001185100.2:c.412+210_412+216del | NP_001172029.1:n.412+210_412+216del | |
| NM_001278417.2:c.9+210_9+216del | NP_001265346.1:n.9+210_9+216del | |
| NM_001185101.2:c.412+210_412+216del | NP_001172030.1:n.412+210_412+216del |