Linked Data
dbSNP Id:
rs1304097214
gnomAD v2:
X-38145340-T-TCTCCTTCCTCCCCTTCCCCTC
gnomAD v4:
X-38286087-T-TCTCCTTCCTCCCCTTCCCCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38286097_38286098insCCCTTCCCCTCCTCCTTCCTC , CM000685.2:g.38286097_38286098insCCCTTCCCCTCCTCCTTCCTC | GRCh38 |
| NC_000023.10:g.38145350_38145351insCCCTTCCCCTCCTCCTTCCTC , CM000685.1:g.38145350_38145351insCCCTTCCCCTCCTCCTTCCTC | GRCh37 |
| NC_000023.9:g.38030294_38030295insCCCTTCCCCTCCTCCTTCCTC | NCBI36 |
| NG_009553.1:g.46448_46449insGAGGGGAAGGGGAGGAAGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.953+1777_953+1778insGAGGGGAAGGGGAGGAAGGAG | ||
| ENST00000642170.1:n.1826+4871_1826+4872insGAGGGGAAGGGGAGGAAGGAG | ||
| ENST00000642395.2:c.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGGAG | ENSP00000493468.2:n.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGG... | |
| ENST00000642739.1:c.1572+4871_1572+4872insGAGGGGAAGGGGAGGAAGGAG | ENSP00000493596.1:n.1572+4871_1572+4872insGAGGGGAAGGGGAGGAAGG... | |
| ENST00000644238.1:c.1386+4871_1386+4872insGAGGGGAAGGGGAGGAAGGAG | ENSP00000496728.1:n.1386+4871_1386+4872insGAGGGGAAGGGGAGGAAGG... | |
| ENST00000644337.1:c.1719+1006_1719+1007insGAGGGGAAGGGGAGGAAGGAG | ENSP00000494557.1:n.1719+1006_1719+1007insGAGGGGAAGGGGAGGAAGG... | |
| ENST00000645032.1:c.2911_2912insGAGGGGAAGGGGAGGAAGGAG MANE Select | ENSP00000495537.1:p.Gly970_Glu971insGlyGlyGluGlyGluGluGly | |
| ENST00000645124.1:c.*101+1006_*101+1007insGAGGGGAAGGGGAGGAAGGAG | ENSP00000496446.1:n.*101+1006_*101+1007insGAGGGGAAGGGGAGGAAGG... | |
| ENST00000646020.1:c.*594+1006_*594+1007insGAGGGGAAGGGGAGGAAGGAG | ENSP00000494745.1:n.*594+1006_*594+1007insGAGGGGAAGGGGAGGAAGG... | |
| ENST00000318842.11:c.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGGAG | ENSP00000322219.6:n.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGG... | |
| ENST00000339363.7:c.2520+1006_2520+1007insGAGGGGAAGGGGAGGAAGGAG | ENSP00000343671.3:n.2520+1006_2520+1007insGAGGGGAAGGGGAGGAAGG... | |
| ENST00000378505.6:c.2911_2912insGAGGGGAAGGGGAGGAAGGAG | ENSP00000367766.2:p.Gly970_Glu971insGlyGlyGluGlyGluGluGly | |
| ENST00000465127.1:c.172-380024_172-380023insCCCTTCCCCTCCTCCTTCCTC | ENSP00000417050.1:n.172-380024_172-380023insCCCTTCCCCTCCTCCTT... | |
| ENST00000474584.5:c.*37+4871_*37+4872insGAGGGGAAGGGGAGGAAGGAG | ENSP00000418926.1:n.*37+4871_*37+4872insGAGGGGAAGGGGAGGAAGGAG... | |
| ENST00000482855.5:c.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGGAG | ENSP00000419276.1:n.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGG... | |
| ENST00000494707.5:c.139+4871_139+4872insGAGGGGAAGGGGAGGAAGGAG | ||
| NM_000328.2:c.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGGAG | NP_000319.1:n.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGGAG | |
| NM_001034853.1:c.2911_2912insGAGGGGAAGGGGAGGAAGGAG | NP_001030025.1:p.Gly970_Glu971insGlyGlyGluGlyGluGluGly | |
| XM_005272633.1:c.1572+4871_1572+4872insGAGGGGAAGGGGAGGAAGGAG | XP_005272690.1:n.1572+4871_1572+4872insGAGGGGAAGGGGAGGAAGGAG | |
| XM_011543940.1:c.1902+1006_1902+1007insGAGGGGAAGGGGAGGAAGGAG | XP_011542242.1:n.1902+1006_1902+1007insGAGGGGAAGGGGAGGAAGGAG | |
| XM_005272633.3:c.1572+4871_1572+4872insGAGGGGAAGGGGAGGAAGGAG | XP_005272690.1:n.1572+4871_1572+4872insGAGGGGAAGGGGAGGAAGGAG | |
| XM_011543940.3:c.1902+1006_1902+1007insGAGGGGAAGGGGAGGAAGGAG | XP_011542242.1:n.1902+1006_1902+1007insGAGGGGAAGGGGAGGAAGGAG | |
| XM_017029712.2:c.1569+4871_1569+4872insGAGGGGAAGGGGAGGAAGGAG | XP_016885201.1:n.1569+4871_1569+4872insGAGGGGAAGGGGAGGAAGGAG | |
| NM_001367245.1:c.1902+1006_1902+1007insGAGGGGAAGGGGAGGAAGGAG | NP_001354174.1:n.1902+1006_1902+1007insGAGGGGAAGGGGAGGAAGGAG | |
| NM_001367246.1:c.1719+1006_1719+1007insGAGGGGAAGGGGAGGAAGGAG | NP_001354175.1:n.1719+1006_1719+1007insGAGGGGAAGGGGAGGAAGGAG | |
| NM_001367247.1:c.1572+4871_1572+4872insGAGGGGAAGGGGAGGAAGGAG | NP_001354176.1:n.1572+4871_1572+4872insGAGGGGAAGGGGAGGAAGGAG | |
| NM_001367248.1:c.1602+4871_1602+4872insGAGGGGAAGGGGAGGAAGGAG | NP_001354177.1:n.1602+4871_1602+4872insGAGGGGAAGGGGAGGAAGGAG | |
| NM_001367249.1:c.1569+4871_1569+4872insGAGGGGAAGGGGAGGAAGGAG | NP_001354178.1:n.1569+4871_1569+4872insGAGGGGAAGGGGAGGAAGGAG | |
| NM_001367250.1:c.1569+4871_1569+4872insGAGGGGAAGGGGAGGAAGGAG | NP_001354179.1:n.1569+4871_1569+4872insGAGGGGAAGGGGAGGAAGGAG | |
| NM_001367251.1:c.1386+4871_1386+4872insGAGGGGAAGGGGAGGAAGGAG | NP_001354180.1:n.1386+4871_1386+4872insGAGGGGAAGGGGAGGAAGGAG | |
| NR_159803.1:n.2263+1006_2263+1007insGAGGGGAAGGGGAGGAAGGAG | ||
| NR_159804.1:n.1648+4871_1648+4872insGAGGGGAAGGGGAGGAAGGAG | ||
| NR_159805.1:n.1714+4871_1714+4872insGAGGGGAAGGGGAGGAAGGAG | ||
| NR_159806.1:n.1866+1006_1866+1007insGAGGGGAAGGGGAGGAAGGAG | ||
| NR_159807.1:n.1622+4871_1622+4872insGAGGGGAAGGGGAGGAAGGAG | ||
| NR_159808.1:n.1826+4871_1826+4872insGAGGGGAAGGGGAGGAAGGAG | ||
| NM_000328.3:c.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGGAG | NP_000319.1:n.1905+1006_1905+1007insGAGGGGAAGGGGAGGAAGGAG | |
| NM_001034853.2:c.2911_2912insGAGGGGAAGGGGAGGAAGGAG MANE Select | NP_001030025.1:p.Gly970_Glu971insGlyGlyGluGlyGluGluGly |