Linked Data
dbSNP Id:
rs1178225168
gnomAD v2:
16-83107467-GAC-G
gnomAD v3:
16-83073862-GAC-G
gnomAD v4:
16-83073862-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83073866_83073867del , CM000678.2:g.83073866_83073867del | GRCh38 |
| NC_000016.9:g.83107471_83107472del , CM000678.1:g.83107471_83107472del | GRCh37 |
| NC_000016.8:g.81664972_81664973del | NCBI36 |
| NG_052819.1:g.452073_452074del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567109.6:c.366+41648_366+41649del MANE Select | ENSP00000479395.1:n.366+41648_366+41649del | |
| ENST00000268613.14:c.507+41648_507+41649del | ENSP00000268613.10:n.507+41648_507+41649del | |
| ENST00000428848.7:c.366+41648_366+41649del | ENSP00000394557.3:n.366+41648_366+41649del | |
| ENST00000431540.7:c.366+41648_366+41649del | ENSP00000408632.3:n.366+41648_366+41649del | |
| ENST00000539548.6:c.158-51519_158-51518del | ENSP00000442225.2:n.158-51519_158-51518del | |
| ENST00000565636.5:c.366+41648_366+41649del | ENSP00000456491.1:n.366+41648_366+41649del | |
| ENST00000566620.5:c.330+41648_330+41649del | ENSP00000454435.3:n.330+41648_330+41649del | |
| ENST00000567109.5:c.366+41648_366+41649del | ENSP00000479395.1:n.366+41648_366+41649del | |
| ENST00000569454.1:n.283+41648_283+41649del | ||
| ENST00000622885.4:c.327+41648_327+41649del | ENSP00000483719.1:n.327+41648_327+41649del | |
| NM_001220488.1:c.507+41648_507+41649del | NP_001207417.1:n.507+41648_507+41649del | |
| NM_001220489.1:c.366+41648_366+41649del | NP_001207418.1:n.366+41648_366+41649del | |
| NM_001220490.1:c.-396-51519_-396-51518del | NP_001207419.1:n.-396-51519_-396-51518del | |
| NM_001220491.1:c.366+41648_366+41649del | NP_001207420.1:n.366+41648_366+41649del | |
| NM_001220492.1:c.366+41648_366+41649del | NP_001207421.1:n.366+41648_366+41649del | |
| NM_001257.4:c.366+41648_366+41649del | NP_001248.1:n.366+41648_366+41649del | |
| XM_011522804.1:c.63+5378_63+5379del | XP_011521106.1:n.63+5378_63+5379del | |
| XM_011522805.1:c.507+41648_507+41649del | XP_011521107.1:n.507+41648_507+41649del | |
| XM_011522804.3:c.63+5378_63+5379del | XP_011521106.1:n.63+5378_63+5379del | |
| XM_017022848.2:c.507+41648_507+41649del | XP_016878337.1:n.507+41648_507+41649del | |
| XM_017022849.2:c.507+41648_507+41649del | XP_016878338.1:n.507+41648_507+41649del | |
| NM_001257.5:c.366+41648_366+41649del MANE Select | NP_001248.1:n.366+41648_366+41649del | |
| NM_001220488.2:c.507+41648_507+41649del | NP_001207417.1:n.507+41648_507+41649del | |
| NM_001220489.2:c.366+41648_366+41649del | NP_001207418.1:n.366+41648_366+41649del | |
| NM_001220490.2:c.-396-51519_-396-51518del | NP_001207419.1:n.-396-51519_-396-51518del | |
| NM_001220491.2:c.366+41648_366+41649del | NP_001207420.1:n.366+41648_366+41649del | |
| NM_001220492.2:c.366+41648_366+41649del | NP_001207421.1:n.366+41648_366+41649del |