Linked Data
dbSNP Id:
rs1230333473
gnomAD v2:
11-118900729-TA-T
gnomAD v3:
11-119030019-TA-T
gnomAD v4:
11-119030019-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119030021del , CM000673.2:g.119030021del | GRCh38 |
| NC_000011.9:g.118900731del , CM000673.1:g.118900731del | GRCh37 |
| NC_000011.8:g.118405941del | NCBI36 |
| NG_013331.1:g.5887del , LRG_187:g.5887del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.35-456del | ||
| ENST00000697846.1:n.35-456del | ||
| ENST00000697847.1:n.35-456del | ||
| ENST00000697848.1:n.35-456del | ||
| ENST00000697850.1:n.35-456del | ||
| ENST00000638360.1:n.43-456del | ||
| ENST00000638925.1:n.42-456del | ||
| ENST00000650539.1:n.210+150del | ||
| ENST00000330775.9:c.-195-456del | ENSP00000476242.2:n.-195-456del | |
| ENST00000357590.9:c.-195-456del | ENSP00000476176.2:n.-195-456del | |
| ENST00000525039.5:n.229-456del | ||
| ENST00000525102.5:n.562+212del | ||
| ENST00000527992.5:n.33-456del | ||
| ENST00000530407.5:n.25-456del | ||
| ENST00000532085.1:n.844del | ||
| ENST00000538950.5:c.-344-456del | ENSP00000475991.2:n.-344-456del | |
| ENST00000545985.5:c.-196+212del | ENSP00000475241.2:n.-196+212del | |
| NM_001164277.1:c.-196+212del , LRG_187t1:c.-196+212del | NP_001157749.1:n.-196+212del | |
| NM_001164278.1:c.-195-456del | NP_001157750.1:n.-195-456del | |
| NM_001164279.1:c.-344-456del | NP_001157751.1:n.-344-456del | |
| NM_001467.5:c.-195-456del | NP_001458.1:n.-195-456del | |
| NM_001164278.2:c.-195-456del | NP_001157750.1:n.-195-456del | |
| NM_001164279.2:c.-344-456del | NP_001157751.1:n.-344-456del | |
| NM_001467.6:c.-195-456del | NP_001458.1:n.-195-456del | |
| NM_001164277.2:c.-196+212del MANE Select | NP_001157749.1:n.-196+212del |