Linked Data
dbSNP Id:
rs1432502307
gnomAD v2:
2-175689245-ACCTG-A
gnomAD v3:
2-174824517-ACCTG-A
gnomAD v4:
2-174824517-ACCTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174824518_174824521del , CM000664.2:g.174824518_174824521del | GRCh38 |
| NC_000002.11:g.175689246_175689249del , CM000664.1:g.175689246_175689249del | GRCh37 |
| NC_000002.10:g.175397492_175397495del | NCBI36 |
| NG_012642.1:g.185922_185925del | |
| NG_012642.2:g.185922_185925del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.253-3_253del | ||
| ENST00000444394.7:c.253-3_253del | ||
| ENST00000295497.12:c.253-3_253del | ||
| ENST00000409089.7:c.-48-3_-48del | ||
| ENST00000409900.9:c.628-3_628del | ||
| ENST00000413882.6:c.82-3_82del | ||
| ENST00000425395.6:c.*75-3_*75del | ||
| ENST00000443238.6:c.106-3_106del | ||
| ENST00000444394.6:c.253-3_253del | ||
| ENST00000444573.2:c.472-3_472del | ||
| ENST00000451799.2:c.472-3_472del | ||
| ENST00000469597.2:c.*276-3_*276del | ||
| ENST00000488080.6:n.271-3_271del | ||
| ENST00000650731.1:c.-48-3_-48del | ||
| ENST00000650734.1:c.*528-3_*528del | ||
| ENST00000650770.1:c.*542-3_*542del | ||
| ENST00000650938.1:c.152-3_152del | ||
| ENST00000651063.1:n.679-3_679del | ||
| ENST00000651246.1:c.220-3_220del | ||
| ENST00000651315.1:c.220-3_220del | ||
| ENST00000651373.1:c.142-3_142del | ||
| ENST00000651501.1:c.*75-3_*75del | ||
| ENST00000651580.1:c.*207-3_*207del | ||
| ENST00000651599.1:c.*112-3_*112del | ||
| ENST00000651717.1:c.253-12039_253-12036del | ENSP00000499124.1:n.253-12039_253-12036del | |
| ENST00000651803.1:c.*620-3_*620del | ||
| ENST00000651971.1:c.*428-3_*428del | ||
| ENST00000652036.1:c.253-3_253del | ||
| ENST00000652154.1:n.526-3_526del | ||
| ENST00000652208.1:c.472-3_472del | ||
| ENST00000652434.1:c.589-3_589del | ||
| ENST00000652437.1:n.771-3_771del | ||
| ENST00000652674.1:c.*112-3_*112del | ||
| ENST00000652734.1:n.525-3_525del | ||
| ENST00000652756.1:c.472-3_472del | ||
| ENST00000652768.1:n.520-3_520del | ||
| ENST00000295497.11:c.253-3_253del | ||
| ENST00000409089.6:c.-48-3_-48del | ||
| ENST00000409156.7:c.550-3_550del | ||
| ENST00000409597.5:c.76-3_76del | ||
| ENST00000409900.7:c.628-3_628del | ||
| ENST00000413882.5:c.82-3_82del | ||
| ENST00000425395.5:c.*179-3_*179del | ||
| ENST00000443238.5:c.106-3_106del | ||
| ENST00000444394.5:c.-48-3_-48del | ||
| ENST00000444573.1:c.253-3_253del | ||
| ENST00000485882.1:n.87-3_87del | ||
| ENST00000488080.5:n.479-3_479del | ||
| NM_001025201.3:c.550-3_550del | ||
| NM_001206602.1:c.253-3_253del | ||
| NM_001822.5:c.628-3_628del | ||
| NR_038133.1:n.494-3_494del | ||
| NM_001025201.4:c.550-3_550del | ||
| NM_001206602.2:c.253-3_253del | ||
| NM_001371513.1:c.628-3_628del | ||
| NM_001371514.1:c.679-3_679del | ||
| NM_001822.7:c.628-3_628del | ||
| NR_038133.2:n.496-3_496del |