Linked Data
dbSNP Id:
rs758853514
gnomAD v2:
11-126145220-AGGGATGGAG-A
gnomAD v3:
11-126275325-AGGGATGGAG-A
gnomAD v4:
11-126275325-AGGGATGGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275327_126275335del , CM000673.2:g.126275327_126275335del | GRCh38 |
| NC_000011.9:g.126145222_126145230del , CM000673.1:g.126145222_126145230del | GRCh37 |
| NC_000011.8:g.125650432_125650440del | NCBI36 |
| NG_028029.1:g.11288_11296del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1115_1123del | ||
| ENST00000532101.6:n.734_742del | ||
| ENST00000532125.2:c.629_637del | ||
| ENST00000533839.6:c.86-467_86-459del | ENSP00000509952.1:n.86-467_86-459del | |
| ENST00000534011.6:n.924_932del | ||
| ENST00000685484.1:c.632_640del | ||
| ENST00000685601.1:c.632_640del | ||
| ENST00000685765.1:c.632_640del | ||
| ENST00000685844.1:c.*169_*177del | ||
| ENST00000685857.1:n.1371_1379del | ||
| ENST00000686242.1:c.431_439del | ||
| ENST00000686888.1:c.*199_*207del | ||
| ENST00000687699.1:c.756_764del | ||
| ENST00000687786.1:n.2068_2076del | ||
| ENST00000688100.1:n.1553_1561del | ||
| ENST00000688588.1:c.632_640del | ||
| ENST00000688927.1:n.2843_2851del | ||
| ENST00000689283.1:c.*295_*303del | ||
| ENST00000689477.1:c.*525_*533del | ||
| ENST00000689765.1:c.*169-44_*169-36del | ENSP00000509625.1:n.*169-44_*169-36del | |
| ENST00000690512.1:c.*483_*491del | ||
| ENST00000692039.1:c.*430_*438del | ||
| ENST00000692336.1:c.656_664del | ||
| ENST00000693133.1:n.1112_1120del | ||
| ENST00000263578.10:c.632_640del | ||
| ENST00000263578.9:c.632_640del | ||
| ENST00000524751.5:n.873_881del | ||
| ENST00000525083.5:n.352_360del | ||
| ENST00000525770.5:c.*264_*272del | ||
| ENST00000527004.5:c.534_542del | ||
| ENST00000530642.1:n.1414_1422del | ||
| ENST00000532101.5:n.855_863del | ||
| ENST00000532125.1:c.590_598del | ||
| ENST00000533395.5:n.365_373del | ||
| ENST00000533839.5:n.238-467_238-459del | ||
| ENST00000534011.5:n.684_692del | ||
| ENST00000534315.5:n.944_952del | ||
| NM_017547.3:c.632_640del | ||
| NR_037647.1:n.578_586del | ||
| NR_037648.1:n.818_826del | ||
| XM_006718879.2:c.122_130del | ||
| XM_006718880.2:c.-2_7del | ||
| XM_006718881.2:c.-2_7del | ||
| XM_011542895.1:c.122_130del | ||
| XM_011542896.1:c.122_130del | ||
| XM_006718879.3:c.122_130del | ||
| XM_006718881.3:c.-2_7del | ||
| XM_011542895.2:c.122_130del | ||
| XM_011542896.2:c.122_130del | ||
| XM_017018000.2:c.632_640del | ||
| XM_017018001.1:c.122_130del | ||
| XM_017018002.1:c.122_130del | ||
| XM_017018003.2:c.-2_7del | ||
| XM_017018004.1:c.-2_7del | ||
| XM_017018005.1:c.-2_7del | ||
| XM_017018006.2:c.-2_7del | ||
| NM_017547.4:c.632_640del | ||
| NR_037647.2:n.464_472del | ||
| NR_037648.2:n.809_817del |