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:
625244
ClinVar RCV Id:
RCV000767267
dbSNP Id:
rs1559428134
gnomAD v4:
3-10146567-CA-C
CIViC:
CA432421843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146570del , CM000665.2:g.10146570del | GRCh38 |
| NC_000003.11:g.10188254del , CM000665.1:g.10188254del | GRCh37 |
| NC_000003.10:g.10163254del | NCBI36 |
| NG_008212.3:g.9936del , LRG_322:g.9936del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*74del | ENSP00000512434.1:n.*74del | |
| ENST00000696143.1:c.600-3217del | ENSP00000512435.1:n.600-3217del | |
| ENST00000696153.1:c.397del | ENSP00000512444.1:p.Thr133LeufsTer? | |
| ENST00000256474.3:c.397del MANE Select | ENSP00000256474.3:p.Thr133LeufsTer26 | |
| ENST00000256474.2:c.397del | ENSP00000256474.2:p.Thr133LeufsTer26 | |
| ENST00000345392.2:c.341-3217del | ENSP00000344757.2:n.341-3217del | |
| ENST00000477538.1:n.533del | ||
| NM_000551.3:c.397del , LRG_322t1:c.397del | NP_000542.1:p.Thr133LeufsTer26 | |
| NM_198156.2:c.341-3217del | NP_937799.1:n.341-3217del | |
| XM_011534078.1:c.*74del | XP_011532380.1:n.*74del | |
| NM_001354723.1:c.*18-3217del | NP_001341652.1:n.*18-3217del | |
| NM_000551.4:c.397del MANE Select | NP_000542.1:p.Thr133LeufsTer26 | |
| NM_001354723.2:c.*18-3217del | NP_001341652.1:n.*18-3217del | |
| NM_198156.3:c.341-3217del | NP_937799.1:n.341-3217del |