Linked Data
ClinVar Variation Id:
2859302
ClinVar RCV Id:
RCV003701786
dbSNP Id:
rs1461981855
gnomAD v2:
X-21863424-TTCC-T
gnomAD v3:
X-21845306-TTCC-T
gnomAD v4:
X-21845306-TTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845312_21845314del , CM000685.2:g.21845312_21845314del | GRCh38 |
| NC_000023.10:g.21863430_21863432del , CM000685.1:g.21863430_21863432del | GRCh37 |
| NC_000023.9:g.21773351_21773353del | NCBI36 |
| NG_012797.1:g.10775_10777del | |
| NG_012797.2:g.10775_10777del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.366_368del MANE Select | ENSP00000368798.5:p.Ser123del | |
| ENST00000365779.2:c.366_368del | ENSP00000368796.1:p.Ser123del | |
| ENST00000379484.9:c.366_368del | ENSP00000368798.5:p.Ser123del | |
| ENST00000465888.1:n.465_467del | ||
| NM_015884.3:c.366_368del | NP_056968.1:p.Ser123del | |
| NM_015884.4:c.366_368del MANE Select | NP_056968.1:p.Ser123del |