Linked Data
dbSNP Id:
rs779261582
ExAC:
10:17168726 GA / G
gnomAD v2:
10-17168726-GA-G
gnomAD v3:
10-17126727-GA-G
gnomAD v4:
10-17126727-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17126730del , CM000672.2:g.17126730del | GRCh38 |
| NC_000010.10:g.17168729del , CM000672.1:g.17168729del | GRCh37 |
| NC_000010.9:g.17208735del | NCBI36 |
| NG_008967.1:g.8090del , LRG_540:g.8090del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.387+33del MANE Select | ENSP00000367064.4:n.387+33del | |
| ENST00000377823.1:c.387+33del | ENSP00000367054.1:n.387+33del | |
| ENST00000377833.8:c.387+33del | ENSP00000367064.4:n.387+33del | |
| ENST00000433666.5:c.48+33del | ENSP00000415970.1:n.48+33del | |
| NM_001081.3:c.387+33del , LRG_540t1:c.387+33del | NP_001072.2:n.387+33del | |
| XM_011519708.1:c.387+33del | XP_011518010.1:n.387+33del | |
| XM_011519708.2:c.387+33del | XP_011518010.1:n.387+33del | |
| NM_001081.4:c.387+33del MANE Select | NP_001072.2:n.387+33del |