Linked Data
dbSNP Id:
rs67065773
gnomAD v3:
11-118339709-T-TACACACACACAC
gnomAD v4:
11-118339709-T-TACACACACACAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339731_118339742dup , CM000673.2:g.118339731_118339742dup | GRCh38 |
| NC_000011.9:g.118210446_118210457dup , CM000673.1:g.118210446_118210457dup | GRCh37 |
| NC_000011.8:g.117715656_117715667dup | NCBI36 |
| NG_007566.1:g.388_399dup , LRG_39:g.388_399dup | |
| NG_009891.1:g.8024_8035dup , LRG_37:g.8024_8035dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.947_958dup | ||
| ENST00000695667.1:n.465_476dup | ||
| ENST00000300692.9:c.406+54_406+65dup MANE Select | ENSP00000300692.4:n.406+54_406+65dup | |
| ENST00000300692.8:c.406+54_406+65dup | ENSP00000300692.4:n.406+54_406+65dup | |
| ENST00000392884.2:c.275-227_275-216dup | ENSP00000376622.2:n.275-227_275-216dup | |
| ENST00000526561.1:n.80-227_80-216dup | ||
| ENST00000529594.5:c.187+54_187+65dup | ENSP00000437335.1:n.187+54_187+65dup | |
| ENST00000534687.5:c.288-227_288-216dup | ||
| NM_000732.4:c.406+54_406+65dup , LRG_37t1:c.406+54_406+65dup | NP_000723.1:n.406+54_406+65dup | |
| NM_001040651.1:c.275-227_275-216dup | NP_001035741.1:n.275-227_275-216dup | |
| NM_001040651.2:c.275-227_275-216dup | NP_001035741.1:n.275-227_275-216dup | |
| NM_000732.6:c.406+54_406+65dup MANE Select | NP_000723.1:n.406+54_406+65dup |