Linked Data
ClinVar Variation Id:
92658
ClinVar RCV Id:
RCV000078409
dbSNP Id:
rs398123261
MyVariant Identifiers:
chr4:g.52904445del (hg19)
chr4:g.52904445delC (hg19)
chr4:g.52038279del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038280del , CM000666.2:g.52038280del | GRCh38 |
| NC_000004.11:g.52904446del , CM000666.1:g.52904446del | GRCh37 |
| NC_000004.10:g.52599203del | NCBI36 |
| NG_008891.1:g.5041del , LRG_204:g.5041del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.-20del MANE Select | ENSP00000370839.6:n.-20del | |
| ENST00000381431.9:c.-20del | ENSP00000370839.5:n.-20del | |
| NM_000232.4:c.-20del , LRG_204t1:c.-20del | NP_000223.1:n.-20del | |
| XM_011534403.1:c.-20del | XP_011532705.1:n.-20del | |
| NM_000232.5:c.-20del MANE Select | NP_000223.1:n.-20del |