Linked Data
dbSNP Id:
rs769929543
ExAC:
21:47404298 AG / A
gnomAD v2:
21-47404298-AG-A
gnomAD v4:
21-45984384-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984385del , CM000683.2:g.45984385del | GRCh38 |
| NC_000021.8:g.47404299del , CM000683.1:g.47404299del | GRCh37 |
| NC_000021.7:g.46228727del | NCBI36 |
| NG_008674.1:g.7637del , LRG_475:g.7637del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.344del MANE Select | ENSP00000355180.3:p.Ser115ThrfsTer? | |
| ENST00000361866.7:c.344del | ENSP00000355180.3:p.Ser115ThrfsTer? | |
| ENST00000612273.1:c.344del | ENSP00000483630.1:p.Ser115ThrfsTer? | |
| NM_001848.2:c.344del , LRG_475t1:c.344del | NP_001839.2:p.Ser115ThrfsTer? | |
| NM_001848.3:c.344del MANE Select | NP_001839.2:p.Ser115ThrfsTer? |