Linked Data
ClinVar Variation Id:
3027777
ClinVar RCV Id:
RCV003891031
dbSNP Id:
rs2149670355
gnomAD v4:
6-63788161-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63788163_63788164del , CM000668.2:g.63788163_63788164del | GRCh38 |
| NC_000006.11:g.64498056_64498057del , CM000668.1:g.64498056_64498057del | GRCh37 |
| NC_000006.10:g.64556015_64556016del | NCBI36 |
| NG_023443.1:g.1924063_1924064del | |
| NG_023443.2:g.1924063_1924064del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.7665_7666del MANE Select | ENSP00000424243.1:p.Tyr2555Ter | |
| ENST00000370616.6:c.7665_7666del | ENSP00000359650.2:p.Tyr2555Ter | |
| ENST00000370618.7:c.7665_7666del | ENSP00000359652.4:p.Tyr2555Ter | |
| ENST00000370621.7:c.7665_7666del | ENSP00000359655.3:p.Tyr2555Ter | |
| ENST00000398580.3:c.979_980del | ||
| ENST00000486069.1:n.305_306del | ||
| ENST00000503581.5:c.7665_7666del | ENSP00000424243.1:p.Tyr2555Ter | |
| NM_001142800.1:c.7665_7666del | NP_001136272.1:p.Tyr2555Ter | |
| NM_001292009.1:c.7665_7666del | NP_001278938.1:p.Tyr2555Ter | |
| NM_001142800.2:c.7665_7666del MANE Select | NP_001136272.1:p.Tyr2555Ter | |
| NM_001292009.2:c.7665_7666del | NP_001278938.1:p.Tyr2555Ter |