Linked Data
ClinVar Variation Id:
375607
ClinVar RCV Id:
RCV000417082
dbSNP Id:
rs1057519590
PubMed:
PMID:22934317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219927952del , CM000663.2:g.219927952del | GRCh38 |
| NC_000001.10:g.220101294del , CM000663.1:g.220101294del | GRCh37 |
| NC_000001.9:g.218167917del | NCBI36 |
| NG_032153.1:g.5703del | |
| NG_032153.2:g.5703del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696608.1:c.452-844del | ENSP00000512752.1:n.452-844del | |
| ENST00000366926.4:c.492del MANE Select | ENSP00000355893.4:p.Gly165AlafsTer27 | |
| ENST00000356609.2:c.492del | ENSP00000349018.2:p.Gly165AlafsTer27 | |
| ENST00000366926.3:c.492del | ENSP00000355893.3:p.Gly165AlafsTer27 | |
| ENST00000484239.5:n.81-844del | ||
| NM_018713.2:c.492del | NP_061183.2:p.Gly165AlafsTer27 | |
| NR_046437.1:n.703del | ||
| XM_006711437.2:c.452-844del | XP_006711500.2:n.452-844del | |
| XM_011509727.1:c.-36+340del | XP_011508029.1:n.-36+340del | |
| XM_006711437.4:c.452-844del | XP_006711500.2:n.452-844del | |
| NM_001376929.1:c.452-844del | NP_001363858.1:n.452-844del | |
| NM_018713.3:c.492del MANE Select | NP_061183.2:p.Gly165AlafsTer27 | |
| NR_046437.2:n.609del |