Linked Data
ClinVar Variation Id:
56434
ClinVar RCV Id:
RCV000049847
dbSNP Id:
rs386833876
PubMed:
PMID:9915943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848294del , CM000681.2:g.35848294del | GRCh38 |
| NC_000019.9:g.36339196del , CM000681.1:g.36339196del | GRCh37 |
| NC_000019.8:g.41031036del | NCBI36 |
| NG_013356.2:g.25995del , LRG_693:g.25995del | |
| NG_051206.1:g.1660del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1275del MANE Select | ENSP00000368190.4:p.Lys426ArgfsTer10 | |
| ENST00000353632.6:c.1275del | ENSP00000343634.5:p.Lys426ArgfsTer10 | |
| ENST00000378910.9:c.1275del | ENSP00000368190.4:p.Lys426ArgfsTer10 | |
| ENST00000592132.1:n.282del | ||
| NM_004646.3:c.1275del , LRG_693t1:c.1275del | NP_004637.1:p.Lys426ArgfsTer10 | |
| NM_004646.4:c.1275del MANE Select | NP_004637.1:p.Lys426ArgfsTer10 |