Linked Data
ClinVar Variation Id:
143089
ClinVar RCV Id:
RCV000132608
dbSNP Id:
rs527236109
MyVariant Identifiers:
chrX:g.38158366_38158367insCTAC (hg19)
chrX:g.38299113_38299114insCTAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38299115_38299118dup , CM000685.2:g.38299115_38299118dup | GRCh38 |
| NC_000023.10:g.38158368_38158371dup , CM000685.1:g.38158368_38158371dup | GRCh37 |
| NC_000023.9:g.38043312_38043315dup | NCBI36 |
| NG_009553.1:g.33419_33422dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494707.6:c.288_291dup | ||
| ENST00000642170.1:n.1338_1341dup | ||
| ENST00000642395.2:c.1084_1087dup | ENSP00000493468.2:p.Val363GlyfsTer15 | |
| ENST00000642558.1:c.991_994dup | ENSP00000496427.1:p.Val332GlyfsTer15 | |
| ENST00000642739.1:c.1084_1087dup | ENSP00000493596.1:p.Val363GlyfsTer15 | |
| ENST00000644238.1:c.1060-1665_1060-1662dup | ENSP00000496728.1:n.1060-1665_1060-1662du... | |
| ENST00000644337.1:c.1060-1665_1060-1662dup | ENSP00000494557.1:n.1060-1665_1060-1662du... | |
| ENST00000645032.1:c.1084_1087dup MANE Select | ENSP00000495537.1:p.Val363GlyfsTer15 | |
| ENST00000645124.1:c.1084_1087dup | ENSP00000496446.1:p.Val363GlyfsTer15 | |
| ENST00000646020.1:c.1144_1147dup | ENSP00000494745.1:p.Val383GlyfsTer15 | |
| ENST00000318842.11:c.1084_1087dup | ENSP00000322219.6:p.Val363GlyfsTer15 | |
| ENST00000339363.7:c.1084_1087dup | ENSP00000343671.3:p.Val363GlyfsTer15 | |
| ENST00000378505.6:c.1084_1087dup | ENSP00000367766.2:p.Val363GlyfsTer15 | |
| ENST00000464437.1:c.150_153dup | ||
| ENST00000465127.1:c.172-367006_172-367003dup | ENSP00000417050.1:n.172-367006_172-367003... | |
| ENST00000474584.5:c.1084_1087dup | ENSP00000418926.1:p.Val363GlyfsTer15 | |
| ENST00000482855.5:c.1084_1087dup | ENSP00000419276.1:p.Val363GlyfsTer15 | |
| ENST00000494841.1:n.347_350dup | ||
| NM_000328.2:c.1084_1087dup | NP_000319.1:p.Val363GlyfsTer15 | |
| NM_001034853.1:c.1084_1087dup | NP_001030025.1:p.Val363GlyfsTer15 | |
| XM_005272633.1:c.1084_1087dup | XP_005272690.1:p.Val363GlyfsTer15 | |
| XM_011543940.1:c.1081_1084dup | XP_011542242.1:p.Val362GlyfsTer15 | |
| XM_005272633.3:c.1084_1087dup | XP_005272690.1:p.Val363GlyfsTer15 | |
| XM_011543940.3:c.1081_1084dup | XP_011542242.1:p.Val362GlyfsTer15 | |
| XM_017029712.2:c.1081_1084dup | XP_016885201.1:p.Val362GlyfsTer15 | |
| NM_001367245.1:c.1081_1084dup | NP_001354174.1:p.Val362GlyfsTer15 | |
| NM_001367246.1:c.1060-1665_1060-1662dup | NP_001354175.1:n.1060-1665_1060-1662dup | |
| NM_001367247.1:c.1084_1087dup | NP_001354176.1:p.Val363GlyfsTer15 | |
| NM_001367248.1:c.1114_1117dup | NP_001354177.1:p.Val373GlyfsTer15 | |
| NM_001367249.1:c.1081_1084dup | NP_001354178.1:p.Val362GlyfsTer15 | |
| NM_001367250.1:c.1081_1084dup | NP_001354179.1:p.Val362GlyfsTer15 | |
| NM_001367251.1:c.1060-1665_1060-1662dup | NP_001354180.1:n.1060-1665_1060-1662dup | |
| NR_159803.1:n.1286_1289dup | ||
| NR_159804.1:n.1135_1138dup | ||
| NR_159805.1:n.1226_1229dup | ||
| NR_159806.1:n.1226_1229dup | ||
| NR_159807.1:n.1226_1229dup | ||
| NR_159808.1:n.1338_1341dup | ||
| NM_000328.3:c.1084_1087dup | NP_000319.1:p.Val363GlyfsTer15 | |
| NM_001034853.2:c.1084_1087dup MANE Select | NP_001030025.1:p.Val363GlyfsTer15 |