Linked Data
dbSNP Id:
rs2063212421
gnomAD v3:
X-19357600-T-TTCTTCCAGTC
gnomAD v4:
X-19357600-T-TTCTTCCAGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357601_19357610dup , CM000685.2:g.19357601_19357610dup | GRCh38 |
| NC_000023.10:g.19375719_19375728dup , CM000685.1:g.19375719_19375728dup | GRCh37 |
| NC_000023.9:g.19285640_19285649dup | NCBI36 |
| NG_016781.1:g.18709_18718dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.853-51_853-42dup | ENSP00000348062.6:n.853-51_853-42dup | |
| ENST00000379805.4:c.*524-51_*524-42dup | ENSP00000369133.3:n.*524-51_*524-42dup | |
| ENST00000417819.6:c.916-51_916-42dup | ENSP00000404616.2:n.916-51_916-42dup | |
| ENST00000423505.6:c.946-51_946-42dup | ENSP00000406473.2:n.946-51_946-42dup | |
| ENST00000481733.2:n.627-51_627-42dup | ||
| ENST00000696704.1:c.*164-51_*164-42dup | ENSP00000512823.1:n.*164-51_*164-42dup | |
| ENST00000696705.1:c.*287-51_*287-42dup | ENSP00000512824.1:n.*287-51_*287-42dup | |
| ENST00000422285.7:c.832-51_832-42dup MANE Select | ENSP00000394382.2:n.832-51_832-42dup | |
| ENST00000379804.1:c.-12-51_-12-42dup | ENSP00000369132.1:n.-12-51_-12-42dup | |
| ENST00000379806.9:c.946-51_946-42dup | ENSP00000369134.5:n.946-51_946-42dup | |
| ENST00000422285.6:c.832-51_832-42dup | ENSP00000394382.2:n.832-51_832-42dup | |
| ENST00000478795.1:n.220_229dup | ||
| ENST00000481733.1:n.260-51_260-42dup | ||
| ENST00000540249.5:c.739-51_739-42dup | ENSP00000440761.1:n.739-51_739-42dup | |
| ENST00000545074.5:c.853-51_853-42dup | ENSP00000438550.1:n.853-51_853-42dup | |
| NM_000284.3:c.832-51_832-42dup | NP_000275.1:n.832-51_832-42dup | |
| NM_001173454.1:c.946-51_946-42dup | NP_001166925.1:n.946-51_946-42dup | |
| NM_001173455.1:c.853-51_853-42dup | NP_001166926.1:n.853-51_853-42dup | |
| NM_001173456.1:c.739-51_739-42dup | NP_001166927.1:n.739-51_739-42dup | |
| XM_011545531.1:c.967-51_967-42dup | XP_011543833.1:n.967-51_967-42dup | |
| XM_011545532.1:c.874-51_874-42dup | XP_011543834.1:n.874-51_874-42dup | |
| XM_017029574.2:c.853-51_853-42dup | XP_016885063.1:n.853-51_853-42dup | |
| NM_000284.4:c.832-51_832-42dup MANE Select | NP_000275.1:n.832-51_832-42dup | |
| NM_001173454.2:c.946-51_946-42dup | NP_001166925.1:n.946-51_946-42dup | |
| NM_001173455.2:c.853-51_853-42dup | NP_001166926.1:n.853-51_853-42dup | |
| NM_001173456.2:c.739-51_739-42dup | NP_001166927.1:n.739-51_739-42dup |