Identifiers and link-outs to other resources
ClinVar Variation Id:
157749
ClinVar RCV Id:
RCV000145048
dbSNP Id:
rs587783192
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004815del , CM000685.2:g.25004815del | GRCh38 |
| NC_000023.10:g.25022932del , CM000685.1:g.25022932del | GRCh37 |
| NC_000023.9:g.24932853del | NCBI36 |
| NG_008281.1:g.16132del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_139058.2:c.1542del VV | NP_620689.1:p.Gly515AlafsTer18 | |
| NM_139058.3:c.1542del VV MANE Preferred | NP_620689.1:p.Gly515AlafsTer18 | |
| ENST00000379044.4:c.1542del | ENSP00000368332.4:p.Gly515AlafsTer18 |