Linked Data
dbSNP Id:
rs1304934077
gnomAD v2:
X-19377761-CAGTCAGTTA-C
gnomAD v4:
X-19359643-CAGTCAGTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359646_19359654del , CM000685.2:g.19359646_19359654del | GRCh38 |
| NC_000023.10:g.19377764_19377772del , CM000685.1:g.19377764_19377772del | GRCh37 |
| NC_000023.9:g.19287685_19287693del | NCBI36 |
| NG_016781.1:g.20754_20762del | |
| NG_021184.1:g.160610_160618del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1187_*1del | ENSP00000348062.6:n.[c.1187_*1del;Val396G... | |
| ENST00000379805.4:c.*858_*866del | ENSP00000369133.3:n.*858_*866del | |
| ENST00000417819.6:c.1250_*1del | ENSP00000404616.2:n.[c.1250_*1del;Val417G... | |
| ENST00000423505.6:c.1280_*1del | ENSP00000406473.2:n.[c.1280_*1del;Val427G... | |
| ENST00000481733.2:n.961_969del | ||
| ENST00000696704.1:c.*498_*506del | ENSP00000512823.1:n.*498_*506del | |
| ENST00000696705.1:c.*621_*629del | ENSP00000512824.1:n.*621_*629del | |
| ENST00000422285.7:c.1166_*1del MANE Select | ENSP00000394382.2:n.[c.1166_*1del;Val389G... | |
| ENST00000379804.1:c.323_*1del | ENSP00000369132.1:n.[c.323_*1del;Val108Gl... | |
| ENST00000379806.9:c.1280_*1del | ENSP00000369134.5:n.[c.1280_*1del;Val427G... | |
| ENST00000422285.6:c.1166_*1del | ENSP00000394382.2:n.[c.1166_*1del;Val389G... | |
| ENST00000478795.1:n.605_613del | ||
| ENST00000540249.5:c.1073_*1del | ENSP00000440761.1:n.[c.1073_*1del;Val358G... | |
| ENST00000545074.5:c.1187_*1del | ENSP00000438550.1:n.[c.1187_*1del;Val396G... | |
| NM_000284.3:c.1166_*1del | NP_000275.1:n.[c.1166_*1del;Val389GlyfsTe... | |
| NM_001173454.1:c.1280_*1del | NP_001166925.1:n.[c.1280_*1del;Val427Glyf... | |
| NM_001173455.1:c.1187_*1del | NP_001166926.1:n.[c.1187_*1del;Val396Glyf... | |
| NM_001173456.1:c.1073_*1del | NP_001166927.1:n.[c.1073_*1del;Val358Glyf... | |
| XM_011545531.1:c.1301_*1del | XP_011543833.1:n.[c.1301_*1del;Val434Glyf... | |
| XM_011545532.1:c.1208_*1del | XP_011543834.1:n.[c.1208_*1del;Val403Glyf... | |
| XM_017029574.2:c.1187_*1del | XP_016885063.1:n.[c.1187_*1del;Val396Glyf... | |
| NM_000284.4:c.1166_*1del MANE Select | NP_000275.1:n.[c.1166_*1del;Val389GlyfsTe... | |
| NM_001173454.2:c.1280_*1del | NP_001166925.1:n.[c.1280_*1del;Val427Glyf... | |
| NM_001173455.2:c.1187_*1del | NP_001166926.1:n.[c.1187_*1del;Val396Glyf... | |
| NM_001173456.2:c.1073_*1del | NP_001166927.1:n.[c.1073_*1del;Val358Glyf... |