Linked Data
ClinVar Variation Id:
557015
dbSNP Id:
rs1447366650
gnomAD v2:
11-118900002-GAAGT-G
gnomAD v3:
11-119029292-GAAGT-G
gnomAD v4:
11-119029292-GAAGT-G
COSMIC:
COSM4727267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029295_119029298del , CM000673.2:g.119029295_119029298del | GRCh38 |
| NC_000011.9:g.118900005_118900008del , CM000673.1:g.118900005_118900008del | GRCh37 |
| NC_000011.8:g.118405215_118405218del | NCBI36 |
| NG_013331.1:g.6611_6614del , LRG_187:g.6611_6614del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.303_306del | ||
| ENST00000697846.1:n.303_306del | ||
| ENST00000697847.1:n.303_306del | ||
| ENST00000697848.1:n.303_306del | ||
| ENST00000697849.1:n.547_550del | ||
| ENST00000697850.1:n.303_306del | ||
| ENST00000697851.1:n.547_550del | ||
| ENST00000638186.1:n.377_380del | ||
| ENST00000638360.1:n.311_314del | ||
| ENST00000638925.1:n.310_313del | ||
| ENST00000650539.1:n.479_482del | ||
| ENST00000330775.9:c.74_77del | ENSP00000476242.2:p.Tyr25SerfsTer? | |
| ENST00000357590.9:c.74_77del | ENSP00000476176.2:p.Tyr25SerfsTer? | |
| ENST00000524428.5:n.74_77del | ||
| ENST00000525039.5:n.497_500del | ||
| ENST00000525102.5:n.831_834del | ||
| ENST00000525372.5:n.74_77del | ||
| ENST00000525787.1:n.369_372del | ||
| ENST00000526626.6:n.269_272del | ||
| ENST00000527992.5:n.301_304del | ||
| ENST00000529510.5:n.92_95del | ||
| ENST00000530407.5:n.197+96_197+99del | ||
| ENST00000532085.1:n.1568_1571del | ||
| ENST00000532888.6:n.269_272del | ||
| ENST00000534384.1:n.294_297del | ||
| ENST00000538950.5:c.-172+96_-172+99del | ENSP00000475991.2:n.-172+96_-172+99del | |
| ENST00000545985.5:c.74_77del | ENSP00000475241.2:p.Tyr25SerfsTer? | |
| NM_001164277.1:c.74_77del , LRG_187t1:c.74_77del | NP_001157749.1:p.Tyr25SerfsTer? | |
| NM_001164278.1:c.74_77del | NP_001157750.1:p.Tyr25SerfsTer? | |
| NM_001164279.1:c.-172+96_-172+99del | NP_001157751.1:n.-172+96_-172+99del | |
| NM_001164280.1:c.74_77del | NP_001157752.1:p.Tyr25SerfsTer? | |
| NM_001467.5:c.74_77del | NP_001458.1:p.Tyr25SerfsTer? | |
| NM_001164278.2:c.74_77del | NP_001157750.1:p.Tyr25SerfsTer? | |
| NM_001164279.2:c.-172+96_-172+99del | NP_001157751.1:n.-172+96_-172+99del | |
| NM_001164280.2:c.74_77del | NP_001157752.1:p.Tyr25SerfsTer? | |
| NM_001467.6:c.74_77del | NP_001458.1:p.Tyr25SerfsTer? | |
| NM_001164277.2:c.74_77del MANE Select | NP_001157749.1:p.Tyr25SerfsTer? |