Linked Data
ClinVar Variation Id:
2044914
ClinVar RCV Id:
RCV002917780
dbSNP Id:
rs2067166248
gnomAD v3:
X-38286366-C-CCCTCCCCTTCTCCTT
gnomAD v4:
X-38286366-C-CCCTCCCCTTCTCCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38286378_38286392dup , CM000685.2:g.38286378_38286392dup | GRCh38 |
| NC_000023.10:g.38145631_38145645dup , CM000685.1:g.38145631_38145645dup | GRCh37 |
| NC_000023.9:g.38030575_38030589dup | NCBI36 |
| NG_009553.1:g.46155_46169dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.953+1484_953+1498dup | ||
| ENST00000642170.1:n.1826+4578_1826+4592dup | ||
| ENST00000642395.2:c.1905+713_1905+727dup | ENSP00000493468.2:n.1905+713_1905+727dup | |
| ENST00000642739.1:c.1572+4578_1572+4592dup | ENSP00000493596.1:n.1572+4578_1572+4592dup | |
| ENST00000644238.1:c.1386+4578_1386+4592dup | ENSP00000496728.1:n.1386+4578_1386+4592dup | |
| ENST00000644337.1:c.1719+713_1719+727dup | ENSP00000494557.1:n.1719+713_1719+727dup | |
| ENST00000645032.1:c.2618_2632dup MANE Select | ENSP00000495537.1:p.Glu877_Gly878insGluGlyGluGlyGlu | |
| ENST00000645124.1:c.*101+713_*101+727dup | ENSP00000496446.1:n.*101+713_*101+727dup | |
| ENST00000646020.1:c.*594+713_*594+727dup | ENSP00000494745.1:n.*594+713_*594+727dup | |
| ENST00000318842.11:c.1905+713_1905+727dup | ENSP00000322219.6:n.1905+713_1905+727dup | |
| ENST00000339363.7:c.2520+713_2520+727dup | ENSP00000343671.3:n.2520+713_2520+727dup | |
| ENST00000378505.6:c.2618_2632dup | ENSP00000367766.2:p.Glu877_Gly878insGluGlyGluGlyGlu | |
| ENST00000465127.1:c.172-379743_172-379729dup | ENSP00000417050.1:n.172-379743_172-379729dup | |
| ENST00000474584.5:c.*37+4578_*37+4592dup | ENSP00000418926.1:n.*37+4578_*37+4592dup | |
| ENST00000482855.5:c.1905+713_1905+727dup | ENSP00000419276.1:n.1905+713_1905+727dup | |
| ENST00000494707.5:c.139+4578_139+4592dup | ||
| NM_000328.2:c.1905+713_1905+727dup | NP_000319.1:n.1905+713_1905+727dup | |
| NM_001034853.1:c.2618_2632dup | NP_001030025.1:p.Glu877_Gly878insGluGlyGluGlyGlu | |
| XM_005272633.1:c.1572+4578_1572+4592dup | XP_005272690.1:n.1572+4578_1572+4592dup | |
| XM_011543940.1:c.1902+713_1902+727dup | XP_011542242.1:n.1902+713_1902+727dup | |
| XM_005272633.3:c.1572+4578_1572+4592dup | XP_005272690.1:n.1572+4578_1572+4592dup | |
| XM_011543940.3:c.1902+713_1902+727dup | XP_011542242.1:n.1902+713_1902+727dup | |
| XM_017029712.2:c.1569+4578_1569+4592dup | XP_016885201.1:n.1569+4578_1569+4592dup | |
| NM_001367245.1:c.1902+713_1902+727dup | NP_001354174.1:n.1902+713_1902+727dup | |
| NM_001367246.1:c.1719+713_1719+727dup | NP_001354175.1:n.1719+713_1719+727dup | |
| NM_001367247.1:c.1572+4578_1572+4592dup | NP_001354176.1:n.1572+4578_1572+4592dup | |
| NM_001367248.1:c.1602+4578_1602+4592dup | NP_001354177.1:n.1602+4578_1602+4592dup | |
| NM_001367249.1:c.1569+4578_1569+4592dup | NP_001354178.1:n.1569+4578_1569+4592dup | |
| NM_001367250.1:c.1569+4578_1569+4592dup | NP_001354179.1:n.1569+4578_1569+4592dup | |
| NM_001367251.1:c.1386+4578_1386+4592dup | NP_001354180.1:n.1386+4578_1386+4592dup | |
| NR_159803.1:n.2263+713_2263+727dup | ||
| NR_159804.1:n.1648+4578_1648+4592dup | ||
| NR_159805.1:n.1714+4578_1714+4592dup | ||
| NR_159806.1:n.1866+713_1866+727dup | ||
| NR_159807.1:n.1622+4578_1622+4592dup | ||
| NR_159808.1:n.1826+4578_1826+4592dup | ||
| NM_000328.3:c.1905+713_1905+727dup | NP_000319.1:n.1905+713_1905+727dup | |
| NM_001034853.2:c.2618_2632dup MANE Select | NP_001030025.1:p.Glu877_Gly878insGluGlyGluGlyGlu |