Linked Data
dbSNP Id:
rs1652990188
gnomAD v3:
1-119760044-AGTGCCTACTGT-A
gnomAD v4:
1-119760044-AGTGCCTACTGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119760047_119760057del , CM000663.2:g.119760047_119760057del | GRCh38 |
| NC_000001.10:g.120302670_120302680del , CM000663.1:g.120302670_120302680del | GRCh37 |
| NC_000001.9:g.120104193_120104203del | NCBI36 |
| NG_013348.1:g.13878_13888del , LRG_447:g.13878_13888del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.560-66_560-56del MANE Select | ENSP00000358414.3:n.560-66_560-56del | |
| ENST00000369406.7:c.560-66_560-56del | ENSP00000358414.3:n.560-66_560-56del | |
| ENST00000476640.1:n.456-66_456-56del | ||
| ENST00000544913.2:c.560-773_560-763del | ENSP00000439495.2:n.560-773_560-763del | |
| NM_001166107.1:c.560-773_560-763del , LRG_447t2:c.560-773_560-763del | NP_001159579.1:n.560-773_560-763del | |
| NM_005518.3:c.560-66_560-56del , LRG_447t1:c.560-66_560-56del | NP_005509.1:n.560-66_560-56del | |
| XM_011541313.1:c.560-66_560-56del | XP_011539615.1:n.560-66_560-56del | |
| XM_011541313.2:c.560-66_560-56del | XP_011539615.1:n.560-66_560-56del | |
| NM_005518.4:c.560-66_560-56del MANE Select | NP_005509.1:n.560-66_560-56del |