UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
547831
ClinVar RCV Id:
RCV000660353
dbSNP Id:
rs1553620362
COSMIC:
COSM255077
CIViC:
CA645529570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149908_10149909del , CM000665.2:g.10149908_10149909del | GRCh38 |
| NC_000003.11:g.10191592_10191593del , CM000665.1:g.10191592_10191593del | GRCh37 |
| NC_000003.10:g.10166592_10166593del | NCBI36 |
| NG_008212.3:g.13274_13275del , LRG_322:g.13274_13275del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*262_*263del | ENSP00000512434.1:n.*262_*263del | |
| ENST00000696143.1:c.721_722del | ENSP00000512435.1:n.721_722del | |
| ENST00000696153.1:c.696_697del | ENSP00000512444.1:p.Lys233ArgfsTer? | |
| ENST00000256474.3:c.585_586del MANE Select | ENSP00000256474.3:p.Lys196ArgfsTer? | |
| ENST00000256474.2:c.585_586del | ENSP00000256474.2:p.Lys196ArgfsTer? | |
| ENST00000345392.2:c.462_463del | ENSP00000344757.2:p.Lys155ArgfsTer? | |
| ENST00000477538.1:n.721_722del | ||
| NM_000551.3:c.585_586del , LRG_322t1:c.585_586del | NP_000542.1:p.Lys196ArgfsTer? | |
| NM_198156.2:c.462_463del | NP_937799.1:p.Lys155ArgfsTer? | |
| NM_001354723.1:c.*139_*140del | NP_001341652.1:n.*139_*140del | |
| NM_000551.4:c.585_586del MANE Select | NP_000542.1:p.Lys196ArgfsTer? | |
| NM_001354723.2:c.*139_*140del | NP_001341652.1:n.*139_*140del | |
| NM_198156.3:c.462_463del | NP_937799.1:p.Lys155ArgfsTer? |