Linked Data
dbSNP Id:
rs756410032
ExAC:
11:67353929 GA / G
gnomAD v2:
11-67353929-GA-G
gnomAD v4:
11-67586458-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586459del , CM000673.2:g.67586459del | GRCh38 |
| NC_000011.9:g.67353930del , CM000673.1:g.67353930del | GRCh37 |
| NC_000011.8:g.67110506del | NCBI36 |
| NG_012075.1:g.7865del , LRG_723:g.7865del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.407del | ENSP00000381604.1:p.Asp136ValfsTer29 | |
| ENST00000398606.10:c.515del MANE Select | ENSP00000381607.3:p.Asp172ValfsTer29 | |
| ENST00000646888.1:c.*231del | ENSP00000494477.1:n.*231del | |
| ENST00000398603.5:c.407del | ENSP00000381604.1:p.Asp136ValfsTer29 | |
| ENST00000398606.7:c.515del | ENSP00000381607.3:p.Asp172ValfsTer29 | |
| ENST00000467591.1:n.626del | ||
| ENST00000494593.1:n.1487del | ||
| ENST00000498765.5:c.578del | ||
| NM_000852.3:c.515del , LRG_723t1:c.515del | NP_000843.1:p.Asp172ValfsTer29 | |
| NM_000852.4:c.515del MANE Select | NP_000843.1:p.Asp172ValfsTer29 |