Linked Data
dbSNP Id:
rs1474400295
gnomAD v2:
X-19376875-TATAGTGAC-T
gnomAD v3:
X-19358757-TATAGTGAC-T
gnomAD v4:
X-19358757-TATAGTGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19358761_19358768del , CM000685.2:g.19358761_19358768del | GRCh38 |
| NC_000023.10:g.19376879_19376886del , CM000685.1:g.19376879_19376886del | GRCh37 |
| NC_000023.9:g.19286800_19286807del | NCBI36 |
| NG_016781.1:g.19869_19876del | |
| NG_021184.1:g.161497_161504del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.921-155_921-148del | ENSP00000348062.6:n.921-155_921-148del | |
| ENST00000379805.4:c.*592-155_*592-148del | ENSP00000369133.3:n.*592-155_*592-148del | |
| ENST00000417819.6:c.984-155_984-148del | ENSP00000404616.2:n.984-155_984-148del | |
| ENST00000423505.6:c.1014-155_1014-148del | ENSP00000406473.2:n.1014-155_1014-148del | |
| ENST00000481733.2:n.695-155_695-148del | ||
| ENST00000696704.1:c.*232-155_*232-148del | ENSP00000512823.1:n.*232-155_*232-148del | |
| ENST00000696705.1:c.*355-155_*355-148del | ENSP00000512824.1:n.*355-155_*355-148del | |
| ENST00000422285.7:c.900-155_900-148del MANE Select | ENSP00000394382.2:n.900-155_900-148del | |
| ENST00000379804.1:c.57-155_57-148del | ENSP00000369132.1:n.57-155_57-148del | |
| ENST00000379806.9:c.1014-155_1014-148del | ENSP00000369134.5:n.1014-155_1014-148del | |
| ENST00000422285.6:c.900-155_900-148del | ENSP00000394382.2:n.900-155_900-148del | |
| ENST00000478795.1:n.339-155_339-148del | ||
| ENST00000481733.1:n.328-155_328-148del | ||
| ENST00000540249.5:c.807-155_807-148del | ENSP00000440761.1:n.807-155_807-148del | |
| ENST00000545074.5:c.921-155_921-148del | ENSP00000438550.1:n.921-155_921-148del | |
| NM_000284.3:c.900-155_900-148del | NP_000275.1:n.900-155_900-148del | |
| NM_001173454.1:c.1014-155_1014-148del | NP_001166925.1:n.1014-155_1014-148del | |
| NM_001173455.1:c.921-155_921-148del | NP_001166926.1:n.921-155_921-148del | |
| NM_001173456.1:c.807-155_807-148del | NP_001166927.1:n.807-155_807-148del | |
| XM_011545531.1:c.1035-155_1035-148del | XP_011543833.1:n.1035-155_1035-148del | |
| XM_011545532.1:c.942-155_942-148del | XP_011543834.1:n.942-155_942-148del | |
| XM_017029574.2:c.921-155_921-148del | XP_016885063.1:n.921-155_921-148del | |
| NM_000284.4:c.900-155_900-148del MANE Select | NP_000275.1:n.900-155_900-148del | |
| NM_001173454.2:c.1014-155_1014-148del | NP_001166925.1:n.1014-155_1014-148del | |
| NM_001173455.2:c.921-155_921-148del | NP_001166926.1:n.921-155_921-148del | |
| NM_001173456.2:c.807-155_807-148del | NP_001166927.1:n.807-155_807-148del |