Linked Data
dbSNP Id:
rs1482979089
gnomAD v2:
10-102748754-ACGAGT-A
gnomAD v4:
10-100988997-ACGAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100989000_100989004del , CM000672.2:g.100989000_100989004del | GRCh38 |
| NC_000010.10:g.102748757_102748761del , CM000672.1:g.102748757_102748761del | GRCh37 |
| NC_000010.9:g.102738747_102738751del | NCBI36 |
| NG_011646.1:g.3514_3518del | |
| NG_012624.1:g.6465_6469del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.790_794del MANE Select | ENSP00000309595.2:p.Ser264Ter | |
| ENST00000370228.2:c.790_794del | ENSP00000359248.1:p.Ser264Ter | |
| ENST00000643860.1:c.790_794del | ENSP00000494389.1:p.Ser264Ter | |
| ENST00000646226.1:n.59-644_59-640del | ||
| ENST00000311916.6:c.790_794del | ENSP00000309595.2:p.Ser264Ter | |
| ENST00000370228.1:c.790_794del | ENSP00000359248.1:p.Ser264Ter | |
| ENST00000459764.1:n.87-644_87-640del | ||
| ENST00000473656.5:n.65-644_65-640del | ||
| ENST00000476766.5:n.192-706_192-702del | ||
| NM_001163812.1:c.790_794del | NP_001157284.1:p.Ser264Ter | |
| NM_001163813.1:c.-119-644_-119-640del | NP_001157285.1:n.-119-644_-119-640del | |
| NM_001163814.1:c.-119-644_-119-640del | NP_001157286.1:n.-119-644_-119-640del | |
| NM_021830.4:c.790_794del | NP_068602.2:p.Ser264Ter | |
| XM_011539975.1:c.-57-706_-57-702del | XP_011538277.1:n.-57-706_-57-702del | |
| XR_945788.1:n.1623_1627del | ||
| XM_011539975.2:c.-57-706_-57-702del | XP_011538277.1:n.-57-706_-57-702del | |
| XM_017016437.1:c.-511_-507del | XP_016871926.1:n.-511_-507del | |
| XR_001747142.1:n.964_968del | ||
| XR_001747144.1:n.964_968del | ||
| XR_002956991.1:n.964_968del | ||
| XR_945788.2:n.964_968del | ||
| NM_021830.5:c.790_794del MANE Select | NP_068602.2:p.Ser264Ter | |
| NM_001163812.2:c.790_794del | NP_001157284.1:p.Ser264Ter | |
| NM_001163813.2:c.-119-644_-119-640del | NP_001157285.1:n.-119-644_-119-640del | |
| NM_001163814.2:c.-119-644_-119-640del | NP_001157286.1:n.-119-644_-119-640del | |
| NM_001368275.1:c.-57-706_-57-702del | NP_001355204.1:n.-57-706_-57-702del | |
| NR_160738.1:n.1458_1462del | ||
| NR_160739.1:n.72-644_72-640del | ||
| NR_160740.1:n.1458_1462del | ||
| NR_160741.1:n.1458_1462del | ||
| NR_160742.1:n.1458_1462del |