Linked Data
ClinVar Variation Id:
189621
ClinVar RCV Id:
RCV000170084
dbSNP Id:
rs786205010
PubMed:
PMID:24412290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768067_28768071del , CM000676.2:g.28768067_28768071del | GRCh38 |
| NC_000014.8:g.29237273_29237277del , CM000676.1:g.29237273_29237277del | GRCh37 |
| NC_000014.7:g.28307024_28307028del | NCBI36 |
| NG_009367.1:g.5987_5991del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706482.1:c.788_792del | ENSP00000516406.1:p.Asp263ValfsTer? | |
| ENST00000313071.7:c.788_792del MANE Select | ENSP00000339004.3:p.Asp263ValfsTer? | |
| ENST00000313071.6:c.788_792del | ENSP00000339004.3:p.Asp263ValfsTer? | |
| NM_005249.4:c.788_792del | NP_005240.3:p.Asp263ValfsTer? | |
| NM_005249.5:c.788_792del MANE Select | NP_005240.3:p.Asp263ValfsTer? |