Linked Data
dbSNP Id:
rs757562995
ExAC:
6:31237689 GAAAC / G
gnomAD v2:
6-31237689-GAAAC-G
gnomAD v4:
6-31269912-GAAAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269913_31269916del , CM000668.2:g.31269913_31269916del | GRCh38 |
| NC_000006.11:g.31237690_31237693del , CM000668.1:g.31237690_31237693del | GRCh37 |
| NC_000006.10:g.31345669_31345672del | NCBI36 |
| NG_029422.2:g.7216_7219del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1015+50_1015+53del MANE Select | ENSP00000365402.5:n.1015+50_1015+53del | |
| ENST00000376228.9:c.1015+50_1015+53del | ENSP00000365402.5:n.1015+50_1015+53del | |
| ENST00000376237.8:c.*602+50_*602+53del | ENSP00000365412.4:n.*602+50_*602+53del | |
| ENST00000383329.7:c.1015+50_1015+53del | ENSP00000372819.3:n.1015+50_1015+53del | |
| ENST00000470363.5:n.383_386del | ||
| ENST00000487245.5:n.1374+50_1374+53del | ||
| NM_002117.5:c.1015+50_1015+53del | NP_002108.4:n.1015+50_1015+53del | |
| NM_002117.6:c.1015+50_1015+53del MANE Select | NP_002108.4:n.1015+50_1015+53del |