Linked Data
ClinVar Variation Id:
533410
dbSNP Id:
rs750470319
ExAC:
X:64738000 TTCA / T
gnomAD v2:
X-64738000-TTCA-T
gnomAD v3:
X-65518120-TTCA-T
gnomAD v4:
X-65518120-TTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.65518126_65518128del , CM000685.2:g.65518126_65518128del | GRCh38 |
| NC_000023.10:g.64738006_64738008del , CM000685.1:g.64738006_64738008del | GRCh37 |
| NC_000023.9:g.64654731_64654733del | NCBI36 |
| NG_016369.1:g.21684_21686del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374811.8:c.1791_1793del MANE Select | ENSP00000363944.3:p.Asp597del | |
| ENST00000677056.1:c.*851+5437_*851+5439del | ENSP00000504224.1:n.*851+5437_*851+5439del | |
| ENST00000677087.1:c.1443_1445del | ENSP00000503907.1:p.Asp481del | |
| ENST00000677154.1:n.5846_5848del | ||
| ENST00000677834.1:n.1779_1781del | ||
| ENST00000677969.1:c.1740_1742del | ENSP00000503410.1:p.Asp580del | |
| ENST00000677986.1:n.2840_2842del | ||
| ENST00000678074.1:n.4418_4420del | ||
| ENST00000678173.1:n.3179-50_3179-48del | ||
| ENST00000678547.1:n.6409_6411del | ||
| ENST00000678705.1:n.4506_4508del | ||
| ENST00000678848.1:n.6694_6696del | ||
| ENST00000678956.1:c.*1647_*1649del | ENSP00000504653.1:n.*1647_*1649del | |
| ENST00000679056.1:n.5769_5771del | ||
| ENST00000679116.1:n.6984_6986del | ||
| ENST00000679261.1:n.5891_5893del | ||
| ENST00000679277.1:n.6227_6229del | ||
| ENST00000374804.9:c.1614_1616del | ENSP00000363937.5:p.Asp538del | |
| ENST00000374807.9:c.1740_1742del | ENSP00000363940.5:p.Asp580del | |
| ENST00000374811.7:c.1791_1793del | ENSP00000363944.3:p.Asp597del | |
| ENST00000484069.1:c.*3663_*3665del | ENSP00000473471.1:n.*3663_*3665del | |
| NM_001170649.1:c.1740_1742del | NP_001164120.1:p.Asp580del | |
| NM_001170650.1:c.1614_1616del | NP_001164121.1:p.Asp538del | |
| NM_031206.4:c.1791_1793del | NP_112483.1:p.Asp597del | |
| XM_005262301.1:c.1791_1793del | XP_005262358.1:p.Asp597del | |
| XM_005262307.1:c.885_887del | XP_005262364.1:p.Asp295del | |
| XM_011531045.1:c.1665_1667del | XP_011529347.1:p.Asp555del | |
| XR_244504.1:n.1983_1985del | ||
| XR_430522.1:n.1983_1985del | ||
| XM_005262301.2:c.1791_1793del | XP_005262358.1:p.Asp597del | |
| XM_011531045.2:c.1665_1667del | XP_011529347.1:p.Asp555del | |
| XM_017029877.2:c.1740_1742del | XP_016885366.1:p.Asp580del | |
| XM_017029879.2:c.885_887del | XP_016885368.1:p.Asp295del | |
| XM_017029880.2:c.834_836del | XP_016885369.1:p.Asp278del | |
| XR_001755730.2:n.1919_1921del | ||
| XR_001755731.2:n.3438_3440del | ||
| XR_001755732.2:n.3501_3503del | ||
| XR_001755733.2:n.3450_3452del | ||
| XR_244504.2:n.1970_1972del | ||
| XR_430522.2:n.1970_1972del | ||
| NM_001375328.1:c.1791_1793del | NP_001362257.1:p.Asp597del | |
| NM_001375332.1:c.834_836del | NP_001362261.1:p.Asp278del | |
| NM_001375333.1:c.1740_1742del | NP_001362262.1:p.Asp580del | |
| NM_031206.7:c.1791_1793del MANE Select | NP_112483.1:p.Asp597del | |
| NR_164681.1:n.1979_1981del | ||
| NM_001170649.2:c.1740_1742del | NP_001164120.1:p.Asp580del | |
| NM_001170650.2:c.1614_1616del | NP_001164121.1:p.Asp538del |