Linked Data
ClinVar Variation Id:
625263
ClinVar RCV Id:
RCV000767291
dbSNP Id:
rs1559429778
COSMIC:
COSM17792
MyVariant Identifiers:
chr3:g.10191554del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149870del , CM000665.2:g.10149870del | GRCh38 |
| NC_000003.11:g.10191554del , CM000665.1:g.10191554del | GRCh37 |
| NC_000003.10:g.10166554del | NCBI36 |
| NG_008212.3:g.13236del , LRG_322:g.13236del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*224del | ENSP00000512434.1:n.*224del | |
| ENST00000696143.1:c.683del | ENSP00000512435.1:n.683del | |
| ENST00000696153.1:c.658del | ENSP00000512444.1:p.Ser220ArgfsTer19 | |
| ENST00000256474.3:c.547del MANE Select | ENSP00000256474.3:p.Ser183ArgfsTer19 | |
| ENST00000256474.2:c.547del | ENSP00000256474.2:p.Ser183ArgfsTer19 | |
| ENST00000345392.2:c.424del | ENSP00000344757.2:p.Ser142ArgfsTer19 | |
| ENST00000477538.1:n.683del | ||
| NM_000551.3:c.547del , LRG_322t1:c.547del | NP_000542.1:p.Ser183ArgfsTer19 | |
| NM_198156.2:c.424del | NP_937799.1:p.Ser142ArgfsTer19 | |
| NM_001354723.1:c.*101del | NP_001341652.1:n.*101del | |
| NM_000551.4:c.547del MANE Select | NP_000542.1:p.Ser183ArgfsTer19 | |
| NM_001354723.2:c.*101del | NP_001341652.1:n.*101del | |
| NM_198156.3:c.424del | NP_937799.1:p.Ser142ArgfsTer19 |