Linked Data
dbSNP Id:
rs748294347
ExAC:
X:38145024 CTCT / C
gnomAD v2:
X-38145024-CTCT-C
gnomAD v3:
X-38285771-CTCT-C
gnomAD v4:
X-38285771-CTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38285777_38285779del , CM000685.2:g.38285777_38285779del | GRCh38 |
| NC_000023.10:g.38145030_38145032del , CM000685.1:g.38145030_38145032del | GRCh37 |
| NC_000023.9:g.38029974_38029976del | NCBI36 |
| NG_009553.1:g.46762_46764del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.953+2091_953+2093del | ||
| ENST00000642170.1:n.1826+5185_1826+5187del | ||
| ENST00000642395.2:c.1905+1320_1905+1322del | ENSP00000493468.2:n.1905+1320_1905+1322del | |
| ENST00000642739.1:c.1572+5185_1572+5187del | ENSP00000493596.1:n.1572+5185_1572+5187del | |
| ENST00000644238.1:c.1386+5185_1386+5187del | ENSP00000496728.1:n.1386+5185_1386+5187del | |
| ENST00000644337.1:c.1719+1320_1719+1322del | ENSP00000494557.1:n.1719+1320_1719+1322del | |
| ENST00000645032.1:c.3225_3227del MANE Select | ENSP00000495537.1:p.Glu1076del | |
| ENST00000645124.1:c.*101+1320_*101+1322del | ENSP00000496446.1:n.*101+1320_*101+1322del | |
| ENST00000646020.1:c.*594+1320_*594+1322del | ENSP00000494745.1:n.*594+1320_*594+1322del | |
| ENST00000318842.11:c.1905+1320_1905+1322del | ENSP00000322219.6:n.1905+1320_1905+1322del | |
| ENST00000339363.7:c.2520+1320_2520+1322del | ENSP00000343671.3:n.2520+1320_2520+1322del | |
| ENST00000378505.6:c.3225_3227del | ENSP00000367766.2:p.Glu1076del | |
| ENST00000465127.1:c.172-380344_172-380342del | ENSP00000417050.1:n.172-380344_172-380342del | |
| ENST00000474584.5:c.*37+5185_*37+5187del | ENSP00000418926.1:n.*37+5185_*37+5187del | |
| ENST00000482855.5:c.1905+1320_1905+1322del | ENSP00000419276.1:n.1905+1320_1905+1322del | |
| ENST00000494707.5:c.139+5185_139+5187del | ||
| NM_000328.2:c.1905+1320_1905+1322del | NP_000319.1:n.1905+1320_1905+1322del | |
| NM_001034853.1:c.3225_3227del | NP_001030025.1:p.Glu1076del | |
| XM_005272633.1:c.1572+5185_1572+5187del | XP_005272690.1:n.1572+5185_1572+5187del | |
| XM_011543940.1:c.1902+1320_1902+1322del | XP_011542242.1:n.1902+1320_1902+1322del | |
| XM_005272633.3:c.1572+5185_1572+5187del | XP_005272690.1:n.1572+5185_1572+5187del | |
| XM_011543940.3:c.1902+1320_1902+1322del | XP_011542242.1:n.1902+1320_1902+1322del | |
| XM_017029712.2:c.1569+5185_1569+5187del | XP_016885201.1:n.1569+5185_1569+5187del | |
| NM_001367245.1:c.1902+1320_1902+1322del | NP_001354174.1:n.1902+1320_1902+1322del | |
| NM_001367246.1:c.1719+1320_1719+1322del | NP_001354175.1:n.1719+1320_1719+1322del | |
| NM_001367247.1:c.1572+5185_1572+5187del | NP_001354176.1:n.1572+5185_1572+5187del | |
| NM_001367248.1:c.1602+5185_1602+5187del | NP_001354177.1:n.1602+5185_1602+5187del | |
| NM_001367249.1:c.1569+5185_1569+5187del | NP_001354178.1:n.1569+5185_1569+5187del | |
| NM_001367250.1:c.1569+5185_1569+5187del | NP_001354179.1:n.1569+5185_1569+5187del | |
| NM_001367251.1:c.1386+5185_1386+5187del | NP_001354180.1:n.1386+5185_1386+5187del | |
| NR_159803.1:n.2263+1320_2263+1322del | ||
| NR_159804.1:n.1648+5185_1648+5187del | ||
| NR_159805.1:n.1714+5185_1714+5187del | ||
| NR_159806.1:n.1866+1320_1866+1322del | ||
| NR_159807.1:n.1622+5185_1622+5187del | ||
| NR_159808.1:n.1826+5185_1826+5187del | ||
| NM_000328.3:c.1905+1320_1905+1322del | NP_000319.1:n.1905+1320_1905+1322del | |
| NM_001034853.2:c.3225_3227del MANE Select | NP_001030025.1:p.Glu1076del |