Linked Data
ClinVar Variation Id:
348293
dbSNP Id:
rs200054565
gnomAD v2:
4-187112847-GC-G
gnomAD v3:
4-186191693-GC-G
gnomAD v4:
4-186191693-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191694del , CM000666.2:g.186191694del | GRCh38 |
| NC_000004.11:g.187112848del , CM000666.1:g.187112848del | GRCh37 |
| NC_000004.10:g.187349842del | NCBI36 |
| NG_007965.1:g.5175del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-130del MANE Select | ENSP00000368079.4:n.-130del | |
| ENST00000378802.4:c.-130del | ENSP00000368079.4:n.-130del | |
| NM_207352.3:c.-130del | NP_997235.3:n.-130del | |
| XM_005262935.2:c.-130del | XP_005262992.1:n.-130del | |
| XM_017008037.1:c.-440del | XP_016863526.1:n.-440del | |
| NM_207352.4:c.-130del MANE Select | NP_997235.3:n.-130del |