Linked Data
ClinVar Variation Id:
558317
ClinVar RCV Id:
RCV000674565
dbSNP Id:
rs1555190956
gnomAD v4:
11-119026624-CAGGT-C
MyVariant Identifiers:
chr11:g.119026625_119026628del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026627_119026630del , CM000673.2:g.119026627_119026630del | GRCh38 |
| NC_000011.9:g.118897337_118897340del , CM000673.1:g.118897337_118897340del | GRCh37 |
| NC_000011.8:g.118402547_118402550del | NCBI36 |
| NG_013331.1:g.9278_9281del , LRG_187:g.9278_9281del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1014+309_1014+312del | ||
| ENST00000697845.1:n.1247_1250del | ||
| ENST00000697846.1:n.1014+309_1014+312del | ||
| ENST00000697847.1:n.1075_1078del | ||
| ENST00000697848.1:n.1075_1078del | ||
| ENST00000697849.1:n.2362_2365del | ||
| ENST00000697850.1:n.1075_1078del | ||
| ENST00000697851.1:n.2683_2686del | ||
| ENST00000638186.1:n.1149_1152del | ||
| ENST00000638360.1:n.981_984del | ||
| ENST00000638925.1:n.1082_1085del | ||
| ENST00000650539.1:n.1251_1254del | ||
| ENST00000330775.9:c.845_848del | ENSP00000476242.2:p.Tyr282CysfsTer25 | |
| ENST00000357590.9:c.845_848del | ENSP00000476176.2:p.Tyr282CysfsTer25 | |
| ENST00000524428.5:n.1106+309_1106+312del | ||
| ENST00000525039.5:n.1269_1272del | ||
| ENST00000525102.5:n.1603_1606del | ||
| ENST00000525372.5:n.846_849del | ||
| ENST00000526275.5:n.1627_1630del | ||
| ENST00000527992.5:n.1073_1076del | ||
| ENST00000529510.5:n.558+309_558+312del | ||
| ENST00000530407.5:n.995_998del | ||
| ENST00000532085.1:n.3704_3707del | ||
| ENST00000538950.5:c.626_629del | ENSP00000475991.2:p.Tyr209CysfsTer25 | |
| ENST00000545985.5:c.845_848del | ENSP00000475241.2:p.Tyr282CysfsTer25 | |
| NM_001164277.1:c.845_848del , LRG_187t1:c.845_848del | NP_001157749.1:p.Tyr282CysfsTer25 | |
| NM_001164278.1:c.845_848del | NP_001157750.1:p.Tyr282CysfsTer25 | |
| NM_001164279.1:c.626_629del | NP_001157751.1:p.Tyr209CysfsTer25 | |
| NM_001164280.1:c.845_848del | NP_001157752.1:p.Tyr282CysfsTer25 | |
| NM_001467.5:c.845_848del | NP_001458.1:p.Tyr282CysfsTer25 | |
| NM_001164278.2:c.845_848del | NP_001157750.1:p.Tyr282CysfsTer25 | |
| NM_001164279.2:c.626_629del | NP_001157751.1:p.Tyr209CysfsTer25 | |
| NM_001164280.2:c.845_848del | NP_001157752.1:p.Tyr282CysfsTer25 | |
| NM_001467.6:c.845_848del | NP_001458.1:p.Tyr282CysfsTer25 | |
| NM_001164277.2:c.845_848del MANE Select | NP_001157749.1:p.Tyr282CysfsTer25 |