Linked Data
ClinVar Variation Id:
2065429
ClinVar RCV Id:
RCV002929064
dbSNP Id:
rs758142728
ExAC:
17:37821654 CTG / C
gnomAD v2:
17-37821654-CTG-C
gnomAD v4:
17-39665401-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665404_39665405del , CM000679.2:g.39665404_39665405del | GRCh38 |
| NC_000017.10:g.37821657_37821658del , CM000679.1:g.37821657_37821658del | GRCh37 |
| NC_000017.9:g.35075183_35075184del | NCBI36 |
| NG_008892.1:g.5059_5060del , LRG_210:g.5059_5060del | |
| NG_042278.1:g.2424_2425del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.45_46del MANE Select | ENSP00000312624.2:p.Cys15Ter | |
| ENST00000309889.2:c.45_46del | ENSP00000312624.2:p.Cys15Ter | |
| ENST00000578283.1:c.45_46del | ENSP00000462787.1:p.Cys15Ter | |
| NM_003673.3:c.45_46del , LRG_210t1:c.45_46del | NP_003664.1:p.Cys15Ter | |
| NM_003673.4:c.45_46del MANE Select | NP_003664.1:p.Cys15Ter |