Linked Data
ClinVar Variation Id:
422931
dbSNP Id:
rs752082232
ExAC:
X:19377778 GAGA / G
gnomAD v2:
X-19377778-GAGA-G
gnomAD v3:
X-19359660-GAGA-G
gnomAD v4:
X-19359660-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359663_19359665del , CM000685.2:g.19359663_19359665del | GRCh38 |
| NC_000023.10:g.19377781_19377783del , CM000685.1:g.19377781_19377783del | GRCh37 |
| NC_000023.9:g.19287702_19287704del | NCBI36 |
| NG_016781.1:g.20771_20773del | |
| NG_021184.1:g.160599_160601del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.*10_*12del | ENSP00000348062.6:n.*10_*12del | |
| ENST00000379805.4:c.*875_*877del | ENSP00000369133.3:n.*875_*877del | |
| ENST00000417819.6:c.*10_*12del | ENSP00000404616.2:n.*10_*12del | |
| ENST00000423505.6:c.*10_*12del | ENSP00000406473.2:n.*10_*12del | |
| ENST00000481733.2:n.978_980del | ||
| ENST00000696704.1:c.*515_*517del | ENSP00000512823.1:n.*515_*517del | |
| ENST00000696705.1:c.*638_*640del | ENSP00000512824.1:n.*638_*640del | |
| ENST00000422285.7:c.*10_*12del MANE Select | ENSP00000394382.2:n.*10_*12del | |
| ENST00000379804.1:c.*10_*12del | ENSP00000369132.1:n.*10_*12del | |
| ENST00000379806.9:c.*10_*12del | ENSP00000369134.5:n.*10_*12del | |
| ENST00000422285.6:c.*10_*12del | ENSP00000394382.2:n.*10_*12del | |
| ENST00000478795.1:n.622_624del | ||
| ENST00000540249.5:c.*10_*12del | ENSP00000440761.1:n.*10_*12del | |
| ENST00000545074.5:c.*10_*12del | ENSP00000438550.1:n.*10_*12del | |
| NM_000284.3:c.*10_*12del | NP_000275.1:n.*10_*12del | |
| NM_001173454.1:c.*10_*12del | NP_001166925.1:n.*10_*12del | |
| NM_001173455.1:c.*10_*12del | NP_001166926.1:n.*10_*12del | |
| NM_001173456.1:c.*10_*12del | NP_001166927.1:n.*10_*12del | |
| XM_011545531.1:c.*10_*12del | XP_011543833.1:n.*10_*12del | |
| XM_011545532.1:c.*10_*12del | XP_011543834.1:n.*10_*12del | |
| XM_017029574.2:c.*10_*12del | XP_016885063.1:n.*10_*12del | |
| NM_000284.4:c.*10_*12del MANE Select | NP_000275.1:n.*10_*12del | |
| NM_001173454.2:c.*10_*12del | NP_001166925.1:n.*10_*12del | |
| NM_001173455.2:c.*10_*12del | NP_001166926.1:n.*10_*12del | |
| NM_001173456.2:c.*10_*12del | NP_001166927.1:n.*10_*12del |