Linked Data
dbSNP Id:
rs776425278
ExAC:
6:31238489 CTG / C
gnomAD v2:
6-31238489-CTG-C
gnomAD v3:
6-31270712-CTG-C
gnomAD v4:
6-31270712-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270713_31270714del , CM000668.2:g.31270713_31270714del | GRCh38 |
| NC_000006.11:g.31238490_31238491del , CM000668.1:g.31238490_31238491del | GRCh37 |
| NC_000006.10:g.31346469_31346470del | NCBI36 |
| NG_029422.2:g.6418_6419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.620-229_620-228del MANE Select | ENSP00000365402.5:n.620-229_620-228del | |
| ENST00000376228.9:c.620-229_620-228del | ENSP00000365402.5:n.620-229_620-228del | |
| ENST00000376237.8:c.*207-229_*207-228del | ENSP00000365412.4:n.*207-229_*207-228del | |
| ENST00000383329.7:c.620-229_620-228del | ENSP00000372819.3:n.620-229_620-228del | |
| ENST00000415537.1:c.618-229_618-228del | ||
| ENST00000487245.5:n.979-229_979-228del | ||
| ENST00000495835.1:n.809-229_809-228del | ||
| NM_002117.5:c.620-229_620-228del | NP_002108.4:n.620-229_620-228del | |
| NM_002117.6:c.620-229_620-228del MANE Select | NP_002108.4:n.620-229_620-228del |