Linked Data
gnomAD v3:
X-38286053-T-TTCCCCCTCCCCTTCTCCTTCC
gnomAD v4:
X-38286053-T-TTCCCCCTCCCCTTCTCCTTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38286059_38286079dup , CM000685.2:g.38286059_38286079dup | GRCh38 |
| NC_000023.10:g.38145312_38145332dup , CM000685.1:g.38145312_38145332dup | GRCh37 |
| NC_000023.9:g.38030256_38030276dup | NCBI36 |
| NG_009553.1:g.46462_46482dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.953+1791_953+1811dup | ||
| ENST00000642170.1:n.1826+4885_1826+4905dup | ||
| ENST00000642395.2:c.1905+1020_1905+1040dup | ENSP00000493468.2:n.1905+1020_1905+1040dup | |
| ENST00000642739.1:c.1572+4885_1572+4905dup | ENSP00000493596.1:n.1572+4885_1572+4905dup | |
| ENST00000644238.1:c.1386+4885_1386+4905dup | ENSP00000496728.1:n.1386+4885_1386+4905dup | |
| ENST00000644337.1:c.1719+1020_1719+1040dup | ENSP00000494557.1:n.1719+1020_1719+1040dup | |
| ENST00000645032.1:c.2925_2945dup MANE Select | ENSP00000495537.1:p.Glu982_Glu983insGluGlyGluGlyGluGlyGlu | |
| ENST00000645124.1:c.*101+1020_*101+1040dup | ENSP00000496446.1:n.*101+1020_*101+1040dup | |
| ENST00000646020.1:c.*594+1020_*594+1040dup | ENSP00000494745.1:n.*594+1020_*594+1040dup | |
| ENST00000318842.11:c.1905+1020_1905+1040dup | ENSP00000322219.6:n.1905+1020_1905+1040dup | |
| ENST00000339363.7:c.2520+1020_2520+1040dup | ENSP00000343671.3:n.2520+1020_2520+1040dup | |
| ENST00000378505.6:c.2925_2945dup | ENSP00000367766.2:p.Glu982_Glu983insGluGlyGluGlyGluGlyGlu | |
| ENST00000465127.1:c.172-380062_172-380042dup | ENSP00000417050.1:n.172-380062_172-380042dup | |
| ENST00000474584.5:c.*37+4885_*37+4905dup | ENSP00000418926.1:n.*37+4885_*37+4905dup | |
| ENST00000482855.5:c.1905+1020_1905+1040dup | ENSP00000419276.1:n.1905+1020_1905+1040dup | |
| ENST00000494707.5:c.139+4885_139+4905dup | ||
| NM_000328.2:c.1905+1020_1905+1040dup | NP_000319.1:n.1905+1020_1905+1040dup | |
| NM_001034853.1:c.2925_2945dup | NP_001030025.1:p.Glu982_Glu983insGluGlyGluGlyGluGlyGlu | |
| XM_005272633.1:c.1572+4885_1572+4905dup | XP_005272690.1:n.1572+4885_1572+4905dup | |
| XM_011543940.1:c.1902+1020_1902+1040dup | XP_011542242.1:n.1902+1020_1902+1040dup | |
| XM_005272633.3:c.1572+4885_1572+4905dup | XP_005272690.1:n.1572+4885_1572+4905dup | |
| XM_011543940.3:c.1902+1020_1902+1040dup | XP_011542242.1:n.1902+1020_1902+1040dup | |
| XM_017029712.2:c.1569+4885_1569+4905dup | XP_016885201.1:n.1569+4885_1569+4905dup | |
| NM_001367245.1:c.1902+1020_1902+1040dup | NP_001354174.1:n.1902+1020_1902+1040dup | |
| NM_001367246.1:c.1719+1020_1719+1040dup | NP_001354175.1:n.1719+1020_1719+1040dup | |
| NM_001367247.1:c.1572+4885_1572+4905dup | NP_001354176.1:n.1572+4885_1572+4905dup | |
| NM_001367248.1:c.1602+4885_1602+4905dup | NP_001354177.1:n.1602+4885_1602+4905dup | |
| NM_001367249.1:c.1569+4885_1569+4905dup | NP_001354178.1:n.1569+4885_1569+4905dup | |
| NM_001367250.1:c.1569+4885_1569+4905dup | NP_001354179.1:n.1569+4885_1569+4905dup | |
| NM_001367251.1:c.1386+4885_1386+4905dup | NP_001354180.1:n.1386+4885_1386+4905dup | |
| NR_159803.1:n.2263+1020_2263+1040dup | ||
| NR_159804.1:n.1648+4885_1648+4905dup | ||
| NR_159805.1:n.1714+4885_1714+4905dup | ||
| NR_159806.1:n.1866+1020_1866+1040dup | ||
| NR_159807.1:n.1622+4885_1622+4905dup | ||
| NR_159808.1:n.1826+4885_1826+4905dup | ||
| NM_000328.3:c.1905+1020_1905+1040dup | NP_000319.1:n.1905+1020_1905+1040dup | |
| NM_001034853.2:c.2925_2945dup MANE Select | NP_001030025.1:p.Glu982_Glu983insGluGlyGluGlyGluGlyGlu |