Linked Data
dbSNP Id:
rs772866231
gnomAD v2:
X-19375997-A-AATAAG
gnomAD v3:
X-19357879-A-AATAAG
gnomAD v4:
X-19357879-A-AATAAG
MyVariant Identifiers:
chrX:g.19375997_19375998insATAAG (hg19)
chrX:g.19357879_19357880insATAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357881_19357885dup , CM000685.2:g.19357881_19357885dup | GRCh38 |
| NC_000023.10:g.19375999_19376003dup , CM000685.1:g.19375999_19376003dup | GRCh37 |
| NC_000023.9:g.19285920_19285924dup | NCBI36 |
| NG_016781.1:g.18989_18993dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.920+162_920+166dup | ENSP00000348062.6:n.920+162_920+166dup | |
| ENST00000379805.4:c.*591+162_*591+166dup | ENSP00000369133.3:n.*591+162_*591+166dup | |
| ENST00000417819.6:c.983+162_983+166dup | ENSP00000404616.2:n.983+162_983+166dup | |
| ENST00000423505.6:c.1013+162_1013+166dup | ENSP00000406473.2:n.1013+162_1013+166dup | |
| ENST00000481733.2:n.694+162_694+166dup | ||
| ENST00000696704.1:c.*231+162_*231+166dup | ENSP00000512823.1:n.*231+162_*231+166dup | |
| ENST00000696705.1:c.*354+162_*354+166dup | ENSP00000512824.1:n.*354+162_*354+166dup | |
| ENST00000422285.7:c.899+162_899+166dup MANE Select | ENSP00000394382.2:n.899+162_899+166dup | |
| ENST00000379804.1:c.56+162_56+166dup | ENSP00000369132.1:n.56+162_56+166dup | |
| ENST00000379806.9:c.1013+162_1013+166dup | ENSP00000369134.5:n.1013+162_1013+166dup | |
| ENST00000422285.6:c.899+162_899+166dup | ENSP00000394382.2:n.899+162_899+166dup | |
| ENST00000478795.1:n.338+162_338+166dup | ||
| ENST00000481733.1:n.327+162_327+166dup | ||
| ENST00000540249.5:c.806+162_806+166dup | ENSP00000440761.1:n.806+162_806+166dup | |
| ENST00000545074.5:c.920+162_920+166dup | ENSP00000438550.1:n.920+162_920+166dup | |
| NM_000284.3:c.899+162_899+166dup | NP_000275.1:n.899+162_899+166dup | |
| NM_001173454.1:c.1013+162_1013+166dup | NP_001166925.1:n.1013+162_1013+166dup | |
| NM_001173455.1:c.920+162_920+166dup | NP_001166926.1:n.920+162_920+166dup | |
| NM_001173456.1:c.806+162_806+166dup | NP_001166927.1:n.806+162_806+166dup | |
| XM_011545531.1:c.1034+162_1034+166dup | XP_011543833.1:n.1034+162_1034+166dup | |
| XM_011545532.1:c.941+162_941+166dup | XP_011543834.1:n.941+162_941+166dup | |
| XM_017029574.2:c.920+162_920+166dup | XP_016885063.1:n.920+162_920+166dup | |
| NM_000284.4:c.899+162_899+166dup MANE Select | NP_000275.1:n.899+162_899+166dup | |
| NM_001173454.2:c.1013+162_1013+166dup | NP_001166925.1:n.1013+162_1013+166dup | |
| NM_001173455.2:c.920+162_920+166dup | NP_001166926.1:n.920+162_920+166dup | |
| NM_001173456.2:c.806+162_806+166dup | NP_001166927.1:n.806+162_806+166dup |