Linked Data
dbSNP Id:
rs1282895052
gnomAD v3:
5-162148821-ATTATACT-A
gnomAD v4:
5-162148821-ATTATACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162148824_162148830del , CM000667.2:g.162148824_162148830del | GRCh38 |
| NC_000005.9:g.161575830_161575836del , CM000667.1:g.161575830_161575836del | GRCh37 |
| NC_000005.8:g.161508408_161508414del | NCBI36 |
| NG_009290.1:g.86183_86189del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.924-284_924-278del | ||
| ENST00000361925.9:c.1043-284_1043-278del | ENSP00000354651.5:n.1043-284_1043-278del | |
| ENST00000522053.2:n.814-284_814-278del | ||
| ENST00000523372.2:c.1006-284_1006-278del | ||
| ENST00000638253.1:n.177-284_177-278del | ||
| ENST00000638552.1:c.638-284_638-278del | ENSP00000491763.1:n.638-284_638-278del | |
| ENST00000638660.1:c.638-284_638-278del | ENSP00000492869.1:n.638-284_638-278del | |
| ENST00000638772.1:c.923-284_923-278del | ENSP00000491557.1:n.923-284_923-278del | |
| ENST00000638877.1:c.800-284_800-278del | ||
| ENST00000639046.1:c.314-284_314-278del | ENSP00000492659.1:n.314-284_314-278del | |
| ENST00000639111.2:c.923-284_923-278del | ENSP00000492125.2:n.923-284_923-278del | |
| ENST00000639213.2:c.923-284_923-278del MANE Select | ENSP00000491909.2:n.923-284_923-278del | |
| ENST00000639278.1:c.851-284_851-278del | ENSP00000491958.1:n.851-284_851-278del | |
| ENST00000639384.1:c.923-284_923-278del | ENSP00000491240.1:n.923-284_923-278del | |
| ENST00000639424.1:c.*123-284_*123-278del | ENSP00000491245.1:n.*123-284_*123-278del | |
| ENST00000639683.1:c.857-284_857-278del | ENSP00000492581.1:n.857-284_857-278del | |
| ENST00000639975.1:c.857-284_857-278del | ENSP00000492096.1:n.857-284_857-278del | |
| ENST00000640500.1:n.221-284_221-278del | ||
| ENST00000640574.1:c.638-284_638-278del | ENSP00000491582.1:n.638-284_638-278del | |
| ENST00000640739.1:n.3454-284_3454-278del | ||
| ENST00000640910.1:c.361-284_361-278del | ||
| ENST00000640985.1:c.836-284_836-278del | ENSP00000492293.1:n.836-284_836-278del | |
| ENST00000641017.1:c.923-284_923-278del | ENSP00000493461.1:n.923-284_923-278del | |
| ENST00000356592.7:c.923-284_923-278del | ENSP00000349000.3:n.923-284_923-278del | |
| ENST00000361925.8:c.923-284_923-278del | ENSP00000354651.4:n.923-284_923-278del | |
| ENST00000414552.6:c.1043-284_1043-278del | ENSP00000410732.2:n.1043-284_1043-278del | |
| ENST00000522053.1:c.638-284_638-278del | ENSP00000430182.1:n.638-284_638-278del | |
| ENST00000522990.5:c.*525-284_*525-278del | ENSP00000430732.1:n.*525-284_*525-278del | |
| ENST00000523372.1:c.1044-284_1044-278del | ENSP00000430124.1:n.1044-284_1044-278del | |
| NM_000816.3:c.923-284_923-278del | NP_000807.2:n.923-284_923-278del | |
| NM_198903.2:c.1043-284_1043-278del | NP_944493.2:n.1043-284_1043-278del | |
| NM_198904.2:c.923-284_923-278del | NP_944494.1:n.923-284_923-278del | |
| NM_001375339.1:c.914-284_914-278del | NP_001362268.1:n.914-284_914-278del | |
| NM_001375340.1:c.923-2906_923-2900del | NP_001362269.1:n.923-2906_923-2900del | |
| NM_001375341.1:c.920-284_920-278del | NP_001362270.1:n.920-284_920-278del | |
| NM_001375342.1:c.920-284_920-278del | NP_001362271.1:n.920-284_920-278del | |
| NM_001375343.1:c.1043-284_1043-278del | NP_001362272.1:n.1043-284_1043-278del | |
| NM_001375344.1:c.962-284_962-278del | NP_001362273.1:n.962-284_962-278del | |
| NM_001375345.1:c.857-284_857-278del | NP_001362274.1:n.857-284_857-278del | |
| NM_001375346.1:c.857-284_857-278del | NP_001362275.1:n.857-284_857-278del | |
| NM_001375347.1:c.836-284_836-278del | NP_001362276.1:n.836-284_836-278del | |
| NM_001375348.1:c.503-284_503-278del | NP_001362277.1:n.503-284_503-278del | |
| NM_001375349.1:c.638-284_638-278del | NP_001362278.1:n.638-284_638-278del | |
| NM_001375350.1:c.503-284_503-278del | NP_001362279.1:n.503-284_503-278del | |
| NM_198904.3:c.923-284_923-278del | NP_944494.1:n.923-284_923-278del | |
| NM_198904.4:c.923-284_923-278del MANE Select | NP_944494.1:n.923-284_923-278del |