Linked Data
ClinVar Variation Id:
2152569
ClinVar RCV Id:
RCV003079360
dbSNP Id:
rs1569235966
MyVariant Identifiers:
chrX:g.38145346_38145447del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38286122_38286223del , CM000685.2:g.38286122_38286223del | GRCh38 |
| NC_000023.10:g.38145375_38145476del , CM000685.1:g.38145375_38145476del | GRCh37 |
| NC_000023.9:g.38030319_38030420del | NCBI36 |
| NG_009553.1:g.46342_46443del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.953+1671_953+1772del | ||
| ENST00000642170.1:n.1826+4765_1826+4866del | ||
| ENST00000642395.2:c.1905+900_1905+1001del | ENSP00000493468.2:n.1905+900_1905+1001del | |
| ENST00000642739.1:c.1572+4765_1572+4866del | ENSP00000493596.1:n.1572+4765_1572+4866del | |
| ENST00000644238.1:c.1386+4765_1386+4866del | ENSP00000496728.1:n.1386+4765_1386+4866del | |
| ENST00000644337.1:c.1719+900_1719+1001del | ENSP00000494557.1:n.1719+900_1719+1001del | |
| ENST00000645032.1:c.2805_2906del MANE Select | ENSP00000495537.1:p.Glu936_Glu969del | |
| ENST00000645124.1:c.*101+900_*101+1001del | ENSP00000496446.1:n.*101+900_*101+1001del | |
| ENST00000646020.1:c.*594+900_*594+1001del | ENSP00000494745.1:n.*594+900_*594+1001del | |
| ENST00000318842.11:c.1905+900_1905+1001del | ENSP00000322219.6:n.1905+900_1905+1001del | |
| ENST00000339363.7:c.2520+900_2520+1001del | ENSP00000343671.3:n.2520+900_2520+1001del | |
| ENST00000378505.6:c.2805_2906del | ENSP00000367766.2:p.Glu936_Glu969del | |
| ENST00000465127.1:c.172-379999_172-379898del | ENSP00000417050.1:n.172-379999_172-379898del | |
| ENST00000474584.5:c.*37+4765_*37+4866del | ENSP00000418926.1:n.*37+4765_*37+4866del | |
| ENST00000482855.5:c.1905+900_1905+1001del | ENSP00000419276.1:n.1905+900_1905+1001del | |
| ENST00000494707.5:c.139+4765_139+4866del | ||
| NM_000328.2:c.1905+900_1905+1001del | NP_000319.1:n.1905+900_1905+1001del | |
| NM_001034853.1:c.2805_2906del | NP_001030025.1:p.Glu936_Glu969del | |
| XM_005272633.1:c.1572+4765_1572+4866del | XP_005272690.1:n.1572+4765_1572+4866del | |
| XM_011543940.1:c.1902+900_1902+1001del | XP_011542242.1:n.1902+900_1902+1001del | |
| XM_005272633.3:c.1572+4765_1572+4866del | XP_005272690.1:n.1572+4765_1572+4866del | |
| XM_011543940.3:c.1902+900_1902+1001del | XP_011542242.1:n.1902+900_1902+1001del | |
| XM_017029712.2:c.1569+4765_1569+4866del | XP_016885201.1:n.1569+4765_1569+4866del | |
| NM_001367245.1:c.1902+900_1902+1001del | NP_001354174.1:n.1902+900_1902+1001del | |
| NM_001367246.1:c.1719+900_1719+1001del | NP_001354175.1:n.1719+900_1719+1001del | |
| NM_001367247.1:c.1572+4765_1572+4866del | NP_001354176.1:n.1572+4765_1572+4866del | |
| NM_001367248.1:c.1602+4765_1602+4866del | NP_001354177.1:n.1602+4765_1602+4866del | |
| NM_001367249.1:c.1569+4765_1569+4866del | NP_001354178.1:n.1569+4765_1569+4866del | |
| NM_001367250.1:c.1569+4765_1569+4866del | NP_001354179.1:n.1569+4765_1569+4866del | |
| NM_001367251.1:c.1386+4765_1386+4866del | NP_001354180.1:n.1386+4765_1386+4866del | |
| NR_159803.1:n.2263+900_2263+1001del | ||
| NR_159804.1:n.1648+4765_1648+4866del | ||
| NR_159805.1:n.1714+4765_1714+4866del | ||
| NR_159806.1:n.1866+900_1866+1001del | ||
| NR_159807.1:n.1622+4765_1622+4866del | ||
| NR_159808.1:n.1826+4765_1826+4866del | ||
| NM_000328.3:c.1905+900_1905+1001del | NP_000319.1:n.1905+900_1905+1001del | |
| NM_001034853.2:c.2805_2906del MANE Select | NP_001030025.1:p.Glu936_Glu969del |