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:
560741
dbSNP Id:
rs1559426199
COSMIC:
COSM423187
CIViC:
CA432420639
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142176del , CM000665.2:g.10142176del | GRCh38 |
| NC_000003.11:g.10183860del , CM000665.1:g.10183860del | GRCh37 |
| NC_000003.10:g.10158860del | NCBI36 |
| NG_008212.3:g.5542del , LRG_322:g.5542del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.329del | ENSP00000512434.1:p.His110ProfsTer7 | |
| ENST00000696143.1:c.329del | ENSP00000512435.1:p.His110ProfsTer7 | |
| ENST00000696153.1:c.329del | ENSP00000512444.1:p.His110ProfsTer? | |
| ENST00000256474.3:c.329del MANE Select | ENSP00000256474.3:p.His110ProfsTer? | |
| ENST00000256474.2:c.329del | ENSP00000256474.2:p.His110ProfsTer? | |
| ENST00000345392.2:c.329del | ENSP00000344757.2:p.His110ProfsTer8 | |
| NM_000551.3:c.329del , LRG_322t1:c.329del | NP_000542.1:p.His110ProfsTer? | |
| NM_198156.2:c.329del | NP_937799.1:p.His110ProfsTer8 | |
| XM_011534078.1:c.329del | XP_011532380.1:p.His110ProfsTer7 | |
| NM_001354723.1:c.329del | NP_001341652.1:p.His110ProfsTer7 | |
| NM_000551.4:c.329del MANE Select | NP_000542.1:p.His110ProfsTer? | |
| NM_001354723.2:c.329del | NP_001341652.1:p.His110ProfsTer7 | |
| NM_198156.3:c.329del | NP_937799.1:p.His110ProfsTer8 |