Linked Data
dbSNP Id:
rs753440750
ExAC:
6:31236899 AG / A
gnomAD v2:
6-31236899-AG-A
gnomAD v4:
6-31269122-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269123del , CM000668.2:g.31269123del | GRCh38 |
| NC_000006.11:g.31236900del , CM000668.1:g.31236900del | GRCh37 |
| NC_000006.10:g.31344879del | NCBI36 |
| NG_029422.2:g.8009del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*46del MANE Select | ENSP00000365402.5:n.*46del | |
| ENST00000376228.9:c.*46del | ENSP00000365402.5:n.*46del | |
| ENST00000376237.8:c.*734del | ENSP00000365412.4:n.*734del | |
| ENST00000383329.7:c.*46del | ENSP00000372819.3:n.*46del | |
| ENST00000466892.5:n.380del | ||
| ENST00000470363.5:n.905del | ||
| ENST00000487245.5:n.1506del | ||
| NM_002117.5:c.*46del | NP_002108.4:n.*46del | |
| NM_002117.6:c.*46del MANE Select | NP_002108.4:n.*46del |