Linked Data
dbSNP Id:
rs1856911985
gnomAD v3:
11-36350149-TGTGTGTGG-T
gnomAD v4:
11-36350149-TGTGTGTGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36350159_36350166del , CM000673.2:g.36350159_36350166del | GRCh38 |
| NC_000011.9:g.36371709_36371716del , CM000673.1:g.36371709_36371716del | GRCh37 |
| NC_000011.8:g.36328285_36328292del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530639.6:c.-125-50838_-125-50831del MANE Select | ENSP00000435050.1:n.-125-50838_-125-50831del | |
| ENST00000527172.5:c.-291-43687_-291-43680del | ENSP00000433708.1:n.-291-43687_-291-43680del | |
| ENST00000529034.5:n.152-50838_152-50831del | ||
| ENST00000530639.5:c.-125-50838_-125-50831del | ENSP00000435050.1:n.-125-50838_-125-50831del | |
| ENST00000532121.5:c.-126+94_-126+101del | ENSP00000433893.1:n.-126+94_-126+101del | |
| NM_001160167.1:c.-125-50838_-125-50831del | NP_001153639.1:n.-125-50838_-125-50831del | |
| NM_001160167.2:c.-125-50838_-125-50831del MANE Select | NP_001153639.1:n.-125-50838_-125-50831del |