Linked Data
dbSNP Id:
rs761817853
ExAC:
10:115348152 GC / G
gnomAD v2:
10-115348152-GC-G
gnomAD v3:
10-113588393-GC-G
gnomAD v4:
10-113588393-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588396del , CM000672.2:g.113588396del | GRCh38 |
| NC_000010.10:g.115348155del , CM000672.1:g.115348155del | GRCh37 |
| NC_000010.9:g.115338145del | NCBI36 |
| NG_008956.1:g.40378del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.*27del MANE Select | ENSP00000277903.4:n.*27del | |
| ENST00000351270.3:c.*27del | ENSP00000277903.4:n.*27del | |
| ENST00000542051.5:c.*27del | ENSP00000443283.1:n.*27del | |
| NM_001177660.1:c.*27del | NP_001171131.1:n.*27del | |
| NM_004132.3:c.*27del | NP_004123.1:n.*27del | |
| NM_001177660.2:c.*27del | NP_001171131.1:n.*27del | |
| NM_004132.4:c.*27del | NP_004123.1:n.*27del | |
| NM_004132.5:c.*27del MANE Select | NP_004123.1:n.*27del | |
| NM_001177660.3:c.*27del | NP_001171131.1:n.*27del |