Linked Data
dbSNP Id:
rs779056085
ExAC:
11:64527322 GC / G
gnomAD v2:
11-64527322-GC-G
gnomAD v4:
11-64759850-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759851del , CM000673.2:g.64759851del | GRCh38 |
| NC_000011.9:g.64527323del , CM000673.1:g.64527323del | GRCh37 |
| NC_000011.8:g.64283899del | NCBI36 |
| NG_013018.1:g.5865del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.48del MANE Select | ENSP00000164139.3:p.Arg17ValfsTer9 | |
| ENST00000164139.3:c.48del | ENSP00000164139.3:p.Arg17ValfsTer9 | |
| ENST00000377432.7:c.48del | ENSP00000366650.3:p.Arg17ValfsTer9 | |
| NM_001164716.1:c.48del | NP_001158188.1:p.Arg17ValfsTer9 | |
| NM_005609.2:c.48del | NP_005600.1:p.Arg17ValfsTer9 | |
| NM_005609.3:c.48del | NP_005600.1:p.Arg17ValfsTer9 | |
| NM_005609.4:c.48del MANE Select | NP_005600.1:p.Arg17ValfsTer9 |