Linked Data
dbSNP Id:
rs113541584
ExAC:
1:6529182 TTCC / T
gnomAD v2:
1-6529182-TTCC-T
gnomAD v3:
1-6469122-TTCC-T
gnomAD v4:
1-6469122-TTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6469146_6469148del , CM000663.2:g.6469146_6469148del | GRCh38 |
| NC_000001.10:g.6529206_6529208del , CM000663.1:g.6529206_6529208del | GRCh37 |
| NC_000001.9:g.6451793_6451795del | NCBI36 |
| NG_007978.1:g.55885_55887del , LRG_262:g.55885_55887del | |
| NG_029910.1:g.2071_2073del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340850.10:c.2166_2168del | ENSP00000344570.5:p.Glu723del | |
| ENST00000377728.8:c.2166_2168del MANE Select | ENSP00000366957.3:p.Glu723del | |
| ENST00000377740.5:c.2166_2168del | ENSP00000366969.4:p.Glu723del | |
| ENST00000377748.6:c.2340_2342del | ENSP00000366977.2:p.Glu781del | |
| ENST00000400913.6:c.2166_2168del | ENSP00000383704.1:p.Glu723del | |
| ENST00000400915.8:c.2277_2279del | ENSP00000383706.4:p.Glu760del | |
| ENST00000489097.6:n.2642_2644del | ||
| ENST00000535355.6:c.2373_2375del | ENSP00000441445.1:p.Glu792del | |
| ENST00000537245.6:c.2277_2279del | ENSP00000439625.2:p.Glu760del | |
| ENST00000673471.2:c.2463_2465del | ENSP00000500749.1:p.Glu822del | |
| ENST00000674790.1:c.*2378_*2380del | ENSP00000502815.1:n.*2378_*2380del | |
| ENST00000675123.1:c.2166_2168del | ENSP00000502132.1:p.Glu723del | |
| ENST00000675139.1:n.237_239del | ||
| ENST00000675548.1:c.*1994_*1996del | ENSP00000502684.1:n.*1994_*1996del | |
| ENST00000675694.1:c.2166_2168del | ENSP00000501925.1:p.Glu723del | |
| ENST00000675976.1:c.39_41del | ENSP00000501611.1:p.Glu14del | |
| ENST00000340850.9:c.2166_2168del | ENSP00000344570.5:p.Glu723del | |
| ENST00000377725.5:c.2166_2168del | ENSP00000366954.1:p.Glu723del | |
| ENST00000377728.7:c.2166_2168del | ENSP00000366957.3:p.Glu723del | |
| ENST00000377732.5:c.2277_2279del | ENSP00000366961.1:p.Glu760del | |
| ENST00000377740.4:c.2397_2399del | ENSP00000366969.3:p.Glu800del | |
| ENST00000377748.5:c.2397_2399del | ENSP00000366977.1:p.Glu800del | |
| ENST00000400913.5:c.2166_2168del | ENSP00000383704.1:p.Glu723del | |
| ENST00000400915.7:c.2334_2336del | ENSP00000383706.3:p.Glu779del | |
| ENST00000487949.4:n.1368_1370del | ||
| ENST00000489097.5:n.2642_2644del | ||
| ENST00000535355.5:c.2373_2375del | ENSP00000441445.1:p.Glu792del | |
| ENST00000537245.5:c.2403_2405del | ENSP00000439625.1:p.Glu802del | |
| NM_001042663.1:c.2334_2336del | NP_001036128.1:p.Glu779del | |
| NM_001042664.1:c.2166_2168del | NP_001036129.1:p.Glu723del | |
| NM_001042665.1:c.2166_2168del | NP_001036130.1:p.Glu723del | |
| NM_001265592.1:c.2403_2405del | NP_001252521.1:p.Glu802del | |
| NM_001265593.1:c.2373_2375del | NP_001252522.1:p.Glu792del | |
| NM_001265594.1:c.2166_2168del | NP_001252523.1:p.Glu723del | |
| NM_020631.4:c.2166_2168del | NP_065682.2:p.Glu723del | |
| NM_198681.3:c.2397_2399del | NP_941374.2:p.Glu800del | |
| NM_001042663.2:c.2334_2336del | NP_001036128.1:p.Glu779del | |
| NM_001265594.2:c.2166_2168del | NP_001252523.1:p.Glu723del | |
| NM_020631.5:c.2166_2168del | NP_065682.2:p.Glu723del | |
| NM_001042663.3:c.2277_2279del | NP_001036128.2:p.Glu760del | |
| NM_001265592.2:c.2277_2279del | NP_001252521.2:p.Glu760del | |
| NM_020631.6:c.2166_2168del MANE Select | NP_065682.2:p.Glu723del | |
| NM_198681.4:c.2166_2168del | NP_941374.3:p.Glu723del |