Linked Data
dbSNP Id:
rs1565517740
gnomAD v2:
11-118210660-TTTAAGATCAGGGAAC-T
gnomAD v4:
11-118339945-TTTAAGATCAGGGAAC-T
MyVariant Identifiers:
chr11:g.118210661_118210675del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339946_118339960del , CM000673.2:g.118339946_118339960del | GRCh38 |
| NC_000011.9:g.118210661_118210675del , CM000673.1:g.118210661_118210675del | GRCh37 |
| NC_000011.8:g.117715871_117715885del | NCBI36 |
| NG_007566.1:g.603_617del , LRG_39:g.603_617del | |
| NG_009891.1:g.7785_7799del , LRG_37:g.7785_7799del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.708_722del | ||
| ENST00000695667.1:n.280-54_280-40del | ||
| ENST00000695668.1:n.2260-54_2260-40del | ||
| ENST00000300692.9:c.275-54_275-40del MANE Select | ENSP00000300692.4:n.275-54_275-40del | |
| ENST00000300692.8:c.275-54_275-40del | ENSP00000300692.4:n.275-54_275-40del | |
| ENST00000392884.2:c.274+415_274+429del | ENSP00000376622.2:n.274+415_274+429del | |
| ENST00000526561.1:n.80-466_80-452del | ||
| ENST00000529594.5:c.56-54_56-40del | ENSP00000437335.1:n.56-54_56-40del | |
| ENST00000534687.5:c.287+415_287+429del | ||
| NM_000732.4:c.275-54_275-40del , LRG_37t1:c.275-54_275-40del | NP_000723.1:n.275-54_275-40del | |
| NM_001040651.1:c.274+415_274+429del | NP_001035741.1:n.274+415_274+429del | |
| NM_001040651.2:c.274+415_274+429del | NP_001035741.1:n.274+415_274+429del | |
| NM_000732.6:c.275-54_275-40del MANE Select | NP_000723.1:n.275-54_275-40del |