Linked Data
ClinVar Variation Id:
241465
ClinVar RCV Id:
RCV000233207
dbSNP Id:
rs878855082
gnomAD v2:
16-74808576-CCAG-C
gnomAD v3:
16-74774678-CCAG-C
gnomAD v4:
16-74774678-CCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774681_74774683del , CM000678.2:g.74774681_74774683del | GRCh38 |
| NC_000016.9:g.74808579_74808581del , CM000678.1:g.74808579_74808581del | GRCh37 |
| NC_000016.8:g.73366080_73366082del | NCBI36 |
| NG_017070.1:g.5151_5153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.75_77del MANE Select | ENSP00000219368.3:p.Cys25del | |
| ENST00000219368.7:c.75_77del | ENSP00000219368.3:p.Cys25del | |
| ENST00000567683.5:c.75_77del | ENSP00000455126.1:p.Cys25del | |
| NM_024306.4:c.75_77del | NP_077282.3:p.Cys25del | |
| XM_011523317.1:c.75_77del | XP_011521619.1:p.Cys25del | |
| XM_011523318.1:c.75_77del | XP_011521620.1:p.Cys25del | |
| XM_011523317.3:c.75_77del | XP_011521619.1:p.Cys25del | |
| NM_024306.5:c.75_77del MANE Select | NP_077282.3:p.Cys25del |