Linked Data
ClinVar Variation Id:
142499
dbSNP Id:
rs587782504
gnomAD v2:
2-215595202-CAT-C
gnomAD v3:
2-214730478-CAT-C
gnomAD v4:
2-214730478-CAT-C
PubMed:
PMID:26845104
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730480_214730481del , CM000664.2:g.214730480_214730481del | GRCh38 |
| NC_000002.11:g.215595204_215595205del , CM000664.1:g.215595204_215595205del | GRCh37 |
| NC_000002.10:g.215303449_215303450del | NCBI36 |
| NG_012047.2:g.84225_84226del | |
| NG_012047.3:g.84232_84233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1932_1933del MANE Select | ENSP00000260947.4:p.Cys645Ter | |
| ENST00000421162.2:c.579_580del | ENSP00000392245.2:p.Cys194Ter | |
| ENST00000613192.2:c.187_188del | ENSP00000483275.2:p.Met63ValfsTer? | |
| ENST00000613374.5:c.522_523del | ENSP00000484464.1:p.Cys175Ter | |
| ENST00000613706.5:c.1524_1525del | ENSP00000484976.2:p.Cys509Ter | |
| ENST00000617164.5:c.1875_1876del | ENSP00000480470.1:p.Cys626Ter | |
| ENST00000619009.5:c.393_394del | ENSP00000482293.1:p.Cys132Ter | |
| ENST00000650978.1:c.3307_3308del | ||
| ENST00000260947.8:c.1932_1933del | ENSP00000260947.4:p.Cys645Ter | |
| ENST00000421162.1:c.579_580del | ENSP00000392245.1:p.Cys194Ter | |
| ENST00000432456.5:c.29_30del | ||
| ENST00000455743.5:c.*1552_*1553del | ENSP00000412186.1:n.*1552_*1553del | |
| ENST00000471590.5:n.267_268del | ||
| ENST00000613192.1:c.102_103del | ENSP00000483275.1:p.Cys35Ter | |
| ENST00000613374.4:c.522_523del | ENSP00000484464.1:p.Cys175Ter | |
| ENST00000613706.4:c.579_580del | ENSP00000484976.1:p.Cys194Ter | |
| ENST00000617164.4:c.1875_1876del | ENSP00000480470.1:p.Cys626Ter | |
| ENST00000619009.4:c.393_394del | ENSP00000482293.1:p.Cys132Ter | |
| ENST00000620057.4:c.*598_*599del | ENSP00000481988.1:n.*598_*599del | |
| NM_000465.3:c.1932_1933del | NP_000456.2:p.Cys645Ter | |
| NM_001282543.1:c.1875_1876del | NP_001269472.1:p.Cys626Ter | |
| NM_001282545.1:c.579_580del | NP_001269474.1:p.Cys194Ter | |
| NM_001282548.1:c.522_523del | NP_001269477.1:p.Cys175Ter | |
| NM_001282549.1:c.393_394del | NP_001269478.1:p.Cys132Ter | |
| NR_104212.1:n.1925_1926del | ||
| NR_104215.1:n.1868_1869del | ||
| NR_104216.1:n.1124_1125del | ||
| XM_011511567.1:c.1878_1879del | XP_011509869.1:p.Cys627Ter | |
| XM_017004613.1:c.2031_2032del | XP_016860102.1:p.Cys678Ter | |
| XR_002959322.1:n.2122_2123del | ||
| NM_000465.4:c.1932_1933del MANE Select | NP_000456.2:p.Cys645Ter | |
| NM_001282543.2:c.1875_1876del | NP_001269472.1:p.Cys626Ter | |
| NM_001282545.2:c.579_580del | NP_001269474.1:p.Cys194Ter | |
| NM_001282548.2:c.522_523del | NP_001269477.1:p.Cys175Ter | |
| NM_001282549.2:c.393_394del | NP_001269478.1:p.Cys132Ter | |
| NR_104212.2:n.1897_1898del | ||
| NR_104215.2:n.1840_1841del | ||
| NR_104216.2:n.1096_1097del |