Linked Data
dbSNP Id:
rs1283540366
MyVariant Identifiers:
chr11:g.118900681_118900682insC (hg19)
chr11:g.119029971_119029972insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029973dup , CM000673.2:g.119029973dup | GRCh38 |
| NC_000011.9:g.118900683dup , CM000673.1:g.118900683dup | GRCh37 |
| NC_000011.8:g.118405893dup | NCBI36 |
| NG_013331.1:g.5935dup , LRG_187:g.5935dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.35-408dup | ||
| ENST00000697846.1:n.35-408dup | ||
| ENST00000697847.1:n.35-408dup | ||
| ENST00000697848.1:n.35-408dup | ||
| ENST00000697850.1:n.35-408dup | ||
| ENST00000638186.1:n.3dup | ||
| ENST00000638360.1:n.43-408dup | ||
| ENST00000638925.1:n.42-408dup | ||
| ENST00000650539.1:n.210+198dup | ||
| ENST00000330775.9:c.-195-408dup | ENSP00000476242.2:n.-195-408dup | |
| ENST00000357590.9:c.-195-408dup | ENSP00000476176.2:n.-195-408dup | |
| ENST00000525039.5:n.229-408dup | ||
| ENST00000525102.5:n.562+260dup | ||
| ENST00000527992.5:n.33-408dup | ||
| ENST00000530407.5:n.25-408dup | ||
| ENST00000532085.1:n.892dup | ||
| ENST00000538950.5:c.-344-408dup | ENSP00000475991.2:n.-344-408dup | |
| ENST00000545985.5:c.-196+260dup | ENSP00000475241.2:n.-196+260dup | |
| NM_001164277.1:c.-196+260dup , LRG_187t1:c.-196+260dup | NP_001157749.1:n.-196+260dup | |
| NM_001164278.1:c.-195-408dup | NP_001157750.1:n.-195-408dup | |
| NM_001164279.1:c.-344-408dup | NP_001157751.1:n.-344-408dup | |
| NM_001467.5:c.-195-408dup | NP_001458.1:n.-195-408dup | |
| NM_001164278.2:c.-195-408dup | NP_001157750.1:n.-195-408dup | |
| NM_001164279.2:c.-344-408dup | NP_001157751.1:n.-344-408dup | |
| NM_001467.6:c.-195-408dup | NP_001458.1:n.-195-408dup | |
| NM_001164277.2:c.-196+260dup MANE Select | NP_001157749.1:n.-196+260dup |