Linked Data
dbSNP Id:
rs1224152320
gnomAD v2:
X-19375574-GATGAAATAT-G
gnomAD v3:
X-19357456-GATGAAATAT-G
gnomAD v4:
X-19357456-GATGAAATAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357457_19357465del , CM000685.2:g.19357457_19357465del | GRCh38 |
| NC_000023.10:g.19375575_19375583del , CM000685.1:g.19375575_19375583del | GRCh37 |
| NC_000023.9:g.19285496_19285504del | NCBI36 |
| NG_016781.1:g.18565_18573del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.853-195_853-187del | ENSP00000348062.6:n.853-195_853-187del | |
| ENST00000379805.4:c.*524-195_*524-187del | ENSP00000369133.3:n.*524-195_*524-187del | |
| ENST00000417819.6:c.916-195_916-187del | ENSP00000404616.2:n.916-195_916-187del | |
| ENST00000423505.6:c.946-195_946-187del | ENSP00000406473.2:n.946-195_946-187del | |
| ENST00000481733.2:n.627-195_627-187del | ||
| ENST00000696704.1:c.*164-195_*164-187del | ENSP00000512823.1:n.*164-195_*164-187del | |
| ENST00000696705.1:c.*287-195_*287-187del | ENSP00000512824.1:n.*287-195_*287-187del | |
| ENST00000422285.7:c.832-195_832-187del MANE Select | ENSP00000394382.2:n.832-195_832-187del | |
| ENST00000379804.1:c.-12-195_-12-187del | ENSP00000369132.1:n.-12-195_-12-187del | |
| ENST00000379806.9:c.946-195_946-187del | ENSP00000369134.5:n.946-195_946-187del | |
| ENST00000422285.6:c.832-195_832-187del | ENSP00000394382.2:n.832-195_832-187del | |
| ENST00000478795.1:n.76_84del | ||
| ENST00000481733.1:n.260-195_260-187del | ||
| ENST00000540249.5:c.739-195_739-187del | ENSP00000440761.1:n.739-195_739-187del | |
| ENST00000545074.5:c.853-195_853-187del | ENSP00000438550.1:n.853-195_853-187del | |
| NM_000284.3:c.832-195_832-187del | NP_000275.1:n.832-195_832-187del | |
| NM_001173454.1:c.946-195_946-187del | NP_001166925.1:n.946-195_946-187del | |
| NM_001173455.1:c.853-195_853-187del | NP_001166926.1:n.853-195_853-187del | |
| NM_001173456.1:c.739-195_739-187del | NP_001166927.1:n.739-195_739-187del | |
| XM_011545531.1:c.967-195_967-187del | XP_011543833.1:n.967-195_967-187del | |
| XM_011545532.1:c.874-195_874-187del | XP_011543834.1:n.874-195_874-187del | |
| XM_017029574.2:c.853-195_853-187del | XP_016885063.1:n.853-195_853-187del | |
| NM_000284.4:c.832-195_832-187del MANE Select | NP_000275.1:n.832-195_832-187del | |
| NM_001173454.2:c.946-195_946-187del | NP_001166925.1:n.946-195_946-187del | |
| NM_001173455.2:c.853-195_853-187del | NP_001166926.1:n.853-195_853-187del | |
| NM_001173456.2:c.739-195_739-187del | NP_001166927.1:n.739-195_739-187del |