Linked Data
ClinVar Variation Id:
430941
ClinVar RCV Id:
RCV000590985
dbSNP Id:
rs1554919471
PubMed:
PMID:29372044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768863del , CM000673.2:g.2768863del | GRCh38 |
| NC_000011.9:g.2790093del , CM000673.1:g.2790093del | GRCh37 |
| NC_000011.8:g.2746669del | NCBI36 |
| NG_008935.1:g.328873del , LRG_287:g.328873del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1177del | ENSP00000434560.2:p.Ala393ProfsTer? | |
| ENST00000646564.2:c.994del | ENSP00000495806.2:p.Ala332ProfsTer? | |
| ENST00000155840.12:c.1534del MANE Select | ENSP00000155840.2:p.Ala512ProfsTer? | |
| ENST00000335475.6:c.1153del | ENSP00000334497.5:p.Ala385ProfsTer? | |
| ENST00000646564.1:c.640del | ENSP00000495806.1:p.Ala214ProfsTer? | |
| ENST00000155840.9:c.1534del | ENSP00000155840.2:p.Ala512ProfsTer? | |
| ENST00000335475.5:c.1153del | ENSP00000334497.5:p.Ala385ProfsTer? | |
| NM_000218.2:c.1534del , LRG_287t1:c.1534del | NP_000209.2:p.Ala512ProfsTer? | |
| NM_181798.1:c.1153del , LRG_287t2:c.1153del | NP_861463.1:p.Ala385ProfsTer? | |
| NM_000218.3:c.1534del MANE Select | NP_000209.2:p.Ala512ProfsTer? |