Linked Data
dbSNP Id:
rs759518534
ExAC:
21:47404242 AG / A
gnomAD v2:
21-47404242-AG-A
gnomAD v4:
21-45984328-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984330del , CM000683.2:g.45984330del | GRCh38 |
| NC_000021.8:g.47404244del , CM000683.1:g.47404244del | GRCh37 |
| NC_000021.7:g.46228672del | NCBI36 |
| NG_008674.1:g.7582del , LRG_475:g.7582del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.289del MANE Select | ENSP00000355180.3:p.Val97TrpfsTer? | |
| ENST00000361866.7:c.289del | ENSP00000355180.3:p.Val97TrpfsTer? | |
| ENST00000612273.1:c.289del | ENSP00000483630.1:p.Val97TrpfsTer? | |
| NM_001848.2:c.289del , LRG_475t1:c.289del | NP_001839.2:p.Val97TrpfsTer? | |
| NM_001848.3:c.289del MANE Select | NP_001839.2:p.Val97TrpfsTer? |