Linked Data
dbSNP Id:
rs1444165378
gnomAD v2:
X-19376066-AAG-A
gnomAD v3:
X-19357948-AAG-A
gnomAD v4:
X-19357948-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357951_19357952del , CM000685.2:g.19357951_19357952del | GRCh38 |
| NC_000023.10:g.19376069_19376070del , CM000685.1:g.19376069_19376070del | GRCh37 |
| NC_000023.9:g.19285990_19285991del | NCBI36 |
| NG_016781.1:g.19059_19060del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.920+232_920+233del | ENSP00000348062.6:n.920+232_920+233del | |
| ENST00000379805.4:c.*591+232_*591+233del | ENSP00000369133.3:n.*591+232_*591+233del | |
| ENST00000417819.6:c.983+232_983+233del | ENSP00000404616.2:n.983+232_983+233del | |
| ENST00000423505.6:c.1013+232_1013+233del | ENSP00000406473.2:n.1013+232_1013+233del | |
| ENST00000481733.2:n.694+232_694+233del | ||
| ENST00000696704.1:c.*231+232_*231+233del | ENSP00000512823.1:n.*231+232_*231+233del | |
| ENST00000696705.1:c.*354+232_*354+233del | ENSP00000512824.1:n.*354+232_*354+233del | |
| ENST00000422285.7:c.899+232_899+233del MANE Select | ENSP00000394382.2:n.899+232_899+233del | |
| ENST00000379804.1:c.56+232_56+233del | ENSP00000369132.1:n.56+232_56+233del | |
| ENST00000379806.9:c.1013+232_1013+233del | ENSP00000369134.5:n.1013+232_1013+233del | |
| ENST00000422285.6:c.899+232_899+233del | ENSP00000394382.2:n.899+232_899+233del | |
| ENST00000478795.1:n.338+232_338+233del | ||
| ENST00000481733.1:n.327+232_327+233del | ||
| ENST00000540249.5:c.806+232_806+233del | ENSP00000440761.1:n.806+232_806+233del | |
| ENST00000545074.5:c.920+232_920+233del | ENSP00000438550.1:n.920+232_920+233del | |
| NM_000284.3:c.899+232_899+233del | NP_000275.1:n.899+232_899+233del | |
| NM_001173454.1:c.1013+232_1013+233del | NP_001166925.1:n.1013+232_1013+233del | |
| NM_001173455.1:c.920+232_920+233del | NP_001166926.1:n.920+232_920+233del | |
| NM_001173456.1:c.806+232_806+233del | NP_001166927.1:n.806+232_806+233del | |
| XM_011545531.1:c.1034+232_1034+233del | XP_011543833.1:n.1034+232_1034+233del | |
| XM_011545532.1:c.941+232_941+233del | XP_011543834.1:n.941+232_941+233del | |
| XM_017029574.2:c.920+232_920+233del | XP_016885063.1:n.920+232_920+233del | |
| NM_000284.4:c.899+232_899+233del MANE Select | NP_000275.1:n.899+232_899+233del | |
| NM_001173454.2:c.1013+232_1013+233del | NP_001166925.1:n.1013+232_1013+233del | |
| NM_001173455.2:c.920+232_920+233del | NP_001166926.1:n.920+232_920+233del | |
| NM_001173456.2:c.806+232_806+233del | NP_001166927.1:n.806+232_806+233del |