Linked Data
dbSNP Id:
rs746715768
ExAC:
22:42524338 GA / G
gnomAD v2:
22-42524338-GA-G
gnomAD v4:
22-42128336-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128337del , CM000684.2:g.42128337del | GRCh38 |
| NC_000022.10:g.42524339del , CM000684.1:g.42524339del | GRCh37 |
| NC_000022.9:g.40854283del | NCBI36 |
| NG_008376.3:g.6655del | |
| NG_008376.4:g.7474del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.527del | ENSP00000353241.6:p.Val176AlafsTer22 | |
| ENST00000645361.2:c.680del MANE Select | ENSP00000496150.1:p.Val227AlafsTer22 | |
| ENST00000359033.4:c.527del | ENSP00000351927.4:p.Val176AlafsTer22 | |
| ENST00000360124.9:c.347del | ENSP00000353241.5:p.Val116AlafsTer22 | |
| ENST00000360608.9:c.680del | ENSP00000353820.5:p.Val227AlafsTer22 | |
| ENST00000389970.7:c.614del | ENSP00000374620.4:p.Val205AlafsTer22 | |
| ENST00000488442.1:n.1404del | ||
| NM_000106.5:c.680del | NP_000097.3:p.Val227AlafsTer22 | |
| NM_001025161.2:c.527del | NP_001020332.2:p.Val176AlafsTer22 | |
| XM_011529966.1:c.680del | XP_011528268.1:p.Val227AlafsTer22 | |
| XM_011529967.1:c.680del | XP_011528269.1:p.Val227AlafsTer22 | |
| XM_011529968.1:c.680del | XP_011528270.1:p.Val227AlafsTer22 | |
| XM_011529969.1:c.536del | XP_011528271.1:p.Val179AlafsTer22 | |
| XM_011529970.1:c.527del | XP_011528272.1:p.Val176AlafsTer22 | |
| XM_011529971.1:c.536del | XP_011528273.1:p.Val179AlafsTer22 | |
| XM_011529972.1:c.680del | XP_011528274.1:p.Val227AlafsTer22 | |
| NM_000106.6:c.680del MANE Select | NP_000097.3:p.Val227AlafsTer22 | |
| NM_001025161.3:c.527del | NP_001020332.2:p.Val176AlafsTer22 |