Linked Data
ClinVar Variation Id:
370366
ClinVar RCV Id:
RCV000409588
dbSNP Id:
rs1057516433
gnomAD v4:
14-87939964-CA-C
PubMed:
PMID:23319190
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87939965del , CM000676.2:g.87939965del | GRCh38 |
| NC_000014.8:g.88406309del , CM000676.1:g.88406309del | GRCh37 |
| NC_000014.7:g.87476062del | NCBI36 |
| NG_011853.2:g.58599del | |
| NG_011853.3:g.58599del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1851del MANE Select | ENSP00000261304.2:p.Tyr617Ter | |
| ENST00000261304.6:c.1851del | ENSP00000261304.2:p.Tyr617Ter | |
| ENST00000393568.8:c.1782del | ENSP00000377198.4:p.Tyr594Ter | |
| ENST00000393569.6:c.1773del | ENSP00000377199.2:p.Tyr591Ter | |
| ENST00000544807.6:c.1683del | ENSP00000437513.2:p.Tyr561Ter | |
| ENST00000555000.5:c.1218del | ENSP00000450472.1:p.Tyr406Ter | |
| ENST00000555179.1:c.387del | ||
| NM_000153.3:c.1851del | NP_000144.2:p.Tyr617Ter | |
| NM_001201401.1:c.1782del | NP_001188330.1:p.Tyr594Ter | |
| NM_001201402.1:c.1773del | NP_001188331.1:p.Tyr591Ter | |
| XM_011536618.1:c.1683del | XP_011534920.1:p.Tyr561Ter | |
| XM_011536618.2:c.1683del | XP_011534920.1:p.Tyr561Ter | |
| NM_000153.4:c.1851del MANE Select | NP_000144.2:p.Tyr617Ter | |
| NM_001201401.2:c.1782del | NP_001188330.1:p.Tyr594Ter | |
| NM_001201402.2:c.1773del | NP_001188331.1:p.Tyr591Ter |