Linked Data
ClinVar Variation Id:
867211
dbSNP Id:
rs1569235565
gnomAD v2:
X-38145223-TCC-T
gnomAD v4:
X-38285970-TCC-T
MyVariant Identifiers:
chrX:g.38145225_38145226del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38285973_38285974del , CM000685.2:g.38285973_38285974del | GRCh38 |
| NC_000023.10:g.38145226_38145227del , CM000685.1:g.38145226_38145227del | GRCh37 |
| NC_000023.9:g.38030170_38030171del | NCBI36 |
| NG_009553.1:g.46564_46565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.953+1893_953+1894del | ||
| ENST00000642170.1:n.1826+4987_1826+4988del | ||
| ENST00000642395.2:c.1905+1122_1905+1123del | ENSP00000493468.2:n.1905+1122_1905+1123del | |
| ENST00000642739.1:c.1572+4987_1572+4988del | ENSP00000493596.1:n.1572+4987_1572+4988del | |
| ENST00000644238.1:c.1386+4987_1386+4988del | ENSP00000496728.1:n.1386+4987_1386+4988del | |
| ENST00000644337.1:c.1719+1122_1719+1123del | ENSP00000494557.1:n.1719+1122_1719+1123del | |
| ENST00000645032.1:c.3027_3028del MANE Select | ENSP00000495537.1:p.Glu1010GlyfsTer? | |
| ENST00000645124.1:c.*101+1122_*101+1123del | ENSP00000496446.1:n.*101+1122_*101+1123del | |
| ENST00000646020.1:c.*594+1122_*594+1123del | ENSP00000494745.1:n.*594+1122_*594+1123del | |
| ENST00000318842.11:c.1905+1122_1905+1123del | ENSP00000322219.6:n.1905+1122_1905+1123del | |
| ENST00000339363.7:c.2520+1122_2520+1123del | ENSP00000343671.3:n.2520+1122_2520+1123del | |
| ENST00000378505.6:c.3027_3028del | ENSP00000367766.2:p.Glu1010GlyfsTer? | |
| ENST00000465127.1:c.172-380148_172-380147del | ENSP00000417050.1:n.172-380148_172-380147del | |
| ENST00000474584.5:c.*37+4987_*37+4988del | ENSP00000418926.1:n.*37+4987_*37+4988del | |
| ENST00000482855.5:c.1905+1122_1905+1123del | ENSP00000419276.1:n.1905+1122_1905+1123del | |
| ENST00000494707.5:c.139+4987_139+4988del | ||
| NM_000328.2:c.1905+1122_1905+1123del | NP_000319.1:n.1905+1122_1905+1123del | |
| NM_001034853.1:c.3027_3028del | NP_001030025.1:p.Glu1010GlyfsTer? | |
| XM_005272633.1:c.1572+4987_1572+4988del | XP_005272690.1:n.1572+4987_1572+4988del | |
| XM_011543940.1:c.1902+1122_1902+1123del | XP_011542242.1:n.1902+1122_1902+1123del | |
| XM_005272633.3:c.1572+4987_1572+4988del | XP_005272690.1:n.1572+4987_1572+4988del | |
| XM_011543940.3:c.1902+1122_1902+1123del | XP_011542242.1:n.1902+1122_1902+1123del | |
| XM_017029712.2:c.1569+4987_1569+4988del | XP_016885201.1:n.1569+4987_1569+4988del | |
| NM_001367245.1:c.1902+1122_1902+1123del | NP_001354174.1:n.1902+1122_1902+1123del | |
| NM_001367246.1:c.1719+1122_1719+1123del | NP_001354175.1:n.1719+1122_1719+1123del | |
| NM_001367247.1:c.1572+4987_1572+4988del | NP_001354176.1:n.1572+4987_1572+4988del | |
| NM_001367248.1:c.1602+4987_1602+4988del | NP_001354177.1:n.1602+4987_1602+4988del | |
| NM_001367249.1:c.1569+4987_1569+4988del | NP_001354178.1:n.1569+4987_1569+4988del | |
| NM_001367250.1:c.1569+4987_1569+4988del | NP_001354179.1:n.1569+4987_1569+4988del | |
| NM_001367251.1:c.1386+4987_1386+4988del | NP_001354180.1:n.1386+4987_1386+4988del | |
| NR_159803.1:n.2263+1122_2263+1123del | ||
| NR_159804.1:n.1648+4987_1648+4988del | ||
| NR_159805.1:n.1714+4987_1714+4988del | ||
| NR_159806.1:n.1866+1122_1866+1123del | ||
| NR_159807.1:n.1622+4987_1622+4988del | ||
| NR_159808.1:n.1826+4987_1826+4988del | ||
| NM_000328.3:c.1905+1122_1905+1123del | NP_000319.1:n.1905+1122_1905+1123del | |
| NM_001034853.2:c.3027_3028del MANE Select | NP_001030025.1:p.Glu1010GlyfsTer? |