Linked Data
gnomAD v3:
1-6474647-G-GCCCCCCCCCCCCCCCCCCCCCCC
gnomAD v4:
1-6474647-G-GCCCCCCCCCCCCCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCC , CM000663.2:g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCC | GRCh38 |
| NC_000001.10:g.6534711_6534712insCCCCCCCCCCCCCCCCCCCCCCC , CM000663.1:g.6534711_6534712insCCCCCCCCCCCCCCCCCCCCCCC | GRCh37 |
| NC_000001.9:g.6457298_6457299insCCCCCCCCCCCCCCCCCCCCCCC | NCBI36 |
| NG_007978.1:g.50362_50363insGGGGGGGGGGGGGGGGGGGGGGG , LRG_262:g.50362_50363insGGGGGGGGGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000344570.5:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000377728.8:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG MANE Select | ENSP00000366957.3:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000377740.5:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000366969.4:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000377748.6:c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000366977.2:n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000400913.6:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000383704.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000400915.8:c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000383706.4:n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000489097.6:n.718_719insGGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000535355.6:c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000441445.1:n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000537245.6:c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000439625.2:n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000673471.2:c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000500749.1:n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000674790.1:c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000502815.1:n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGG... | |
| ENST00000675093.1:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000502687.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000675123.1:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000502132.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000675548.1:c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000502684.1:n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGG... | |
| ENST00000675694.1:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000501925.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000676255.1:c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000502459.1:n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000676287.1:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000502810.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000340850.9:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000344570.5:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000377725.5:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000366954.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000377728.7:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000366957.3:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000377732.5:c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000366961.1:n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000377740.4:c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000366969.3:n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000377748.5:c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000366977.1:n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000400913.5:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000383704.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000400915.7:c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000383706.3:n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000489097.5:n.718_719insGGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000535355.5:c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000441445.1:n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000537245.5:c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000439625.1:n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001042663.1:c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001036128.1:n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001042664.1:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001036129.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001042665.1:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001036130.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001265592.1:c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001252521.1:n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001265593.1:c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001252522.1:n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001265594.1:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001252523.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_020631.4:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_065682.2:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_198681.3:c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_941374.2:n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001042663.2:c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001036128.1:n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001265594.2:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001252523.1:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_020631.5:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_065682.2:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001042663.3:c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001036128.2:n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001265592.2:c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_001252521.2:n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_020631.6:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG MANE Select | NP_065682.2:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_198681.4:c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG | NP_941374.3:n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG |