Linked Data
dbSNP Id:
rs2067130440
gnomAD v3:
X-38285991-CCTTCTTCCTCCCCTTCTT-C
gnomAD v4:
X-38285991-CCTTCTTCCTCCCCTTCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38285996_38286013del , CM000685.2:g.38285996_38286013del | GRCh38 |
| NC_000023.10:g.38145249_38145266del , CM000685.1:g.38145249_38145266del | GRCh37 |
| NC_000023.9:g.38030193_38030210del | NCBI36 |
| NG_009553.1:g.46527_46544del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.953+1856_953+1873del | ||
| ENST00000642170.1:n.1826+4950_1826+4967del | ||
| ENST00000642395.2:c.1905+1085_1905+1102del | ENSP00000493468.2:n.1905+1085_1905+1102del | |
| ENST00000642739.1:c.1572+4950_1572+4967del | ENSP00000493596.1:n.1572+4950_1572+4967del | |
| ENST00000644238.1:c.1386+4950_1386+4967del | ENSP00000496728.1:n.1386+4950_1386+4967del | |
| ENST00000644337.1:c.1719+1085_1719+1102del | ENSP00000494557.1:n.1719+1085_1719+1102del | |
| ENST00000645032.1:c.2990_3007del MANE Select | ENSP00000495537.1:p.Glu997_Glu1002del | |
| ENST00000645124.1:c.*101+1085_*101+1102del | ENSP00000496446.1:n.*101+1085_*101+1102del | |
| ENST00000646020.1:c.*594+1085_*594+1102del | ENSP00000494745.1:n.*594+1085_*594+1102del | |
| ENST00000318842.11:c.1905+1085_1905+1102del | ENSP00000322219.6:n.1905+1085_1905+1102del | |
| ENST00000339363.7:c.2520+1085_2520+1102del | ENSP00000343671.3:n.2520+1085_2520+1102del | |
| ENST00000378505.6:c.2990_3007del | ENSP00000367766.2:p.Glu997_Glu1002del | |
| ENST00000465127.1:c.172-380125_172-380108del | ENSP00000417050.1:n.172-380125_172-380108del | |
| ENST00000474584.5:c.*37+4950_*37+4967del | ENSP00000418926.1:n.*37+4950_*37+4967del | |
| ENST00000482855.5:c.1905+1085_1905+1102del | ENSP00000419276.1:n.1905+1085_1905+1102del | |
| ENST00000494707.5:c.139+4950_139+4967del | ||
| NM_000328.2:c.1905+1085_1905+1102del | NP_000319.1:n.1905+1085_1905+1102del | |
| NM_001034853.1:c.2990_3007del | NP_001030025.1:p.Glu997_Glu1002del | |
| XM_005272633.1:c.1572+4950_1572+4967del | XP_005272690.1:n.1572+4950_1572+4967del | |
| XM_011543940.1:c.1902+1085_1902+1102del | XP_011542242.1:n.1902+1085_1902+1102del | |
| XM_005272633.3:c.1572+4950_1572+4967del | XP_005272690.1:n.1572+4950_1572+4967del | |
| XM_011543940.3:c.1902+1085_1902+1102del | XP_011542242.1:n.1902+1085_1902+1102del | |
| XM_017029712.2:c.1569+4950_1569+4967del | XP_016885201.1:n.1569+4950_1569+4967del | |
| NM_001367245.1:c.1902+1085_1902+1102del | NP_001354174.1:n.1902+1085_1902+1102del | |
| NM_001367246.1:c.1719+1085_1719+1102del | NP_001354175.1:n.1719+1085_1719+1102del | |
| NM_001367247.1:c.1572+4950_1572+4967del | NP_001354176.1:n.1572+4950_1572+4967del | |
| NM_001367248.1:c.1602+4950_1602+4967del | NP_001354177.1:n.1602+4950_1602+4967del | |
| NM_001367249.1:c.1569+4950_1569+4967del | NP_001354178.1:n.1569+4950_1569+4967del | |
| NM_001367250.1:c.1569+4950_1569+4967del | NP_001354179.1:n.1569+4950_1569+4967del | |
| NM_001367251.1:c.1386+4950_1386+4967del | NP_001354180.1:n.1386+4950_1386+4967del | |
| NR_159803.1:n.2263+1085_2263+1102del | ||
| NR_159804.1:n.1648+4950_1648+4967del | ||
| NR_159805.1:n.1714+4950_1714+4967del | ||
| NR_159806.1:n.1866+1085_1866+1102del | ||
| NR_159807.1:n.1622+4950_1622+4967del | ||
| NR_159808.1:n.1826+4950_1826+4967del | ||
| NM_000328.3:c.1905+1085_1905+1102del | NP_000319.1:n.1905+1085_1905+1102del | |
| NM_001034853.2:c.2990_3007del MANE Select | NP_001030025.1:p.Glu997_Glu1002del |