Linked Data
ClinVar Variation Id:
1923762
ClinVar RCV Id:
RCV002609102
dbSNP Id:
rs766857614
ExAC:
X:21863457 TTCTTCC / T
gnomAD v2:
X-21863457-TTCTTCC-T
gnomAD v3:
X-21845339-TTCTTCC-T
gnomAD v4:
X-21845339-TTCTTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845348_21845353del , CM000685.2:g.21845348_21845353del | GRCh38 |
| NC_000023.10:g.21863466_21863471del , CM000685.1:g.21863466_21863471del | GRCh37 |
| NC_000023.9:g.21773387_21773392del | NCBI36 |
| NG_012797.1:g.10811_10816del | |
| NG_012797.2:g.10811_10816del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.402_407del MANE Select | ENSP00000368798.5:p.Ser135_Ser136del | |
| ENST00000365779.2:c.402_407del | ENSP00000368796.1:p.Ser135_Ser136del | |
| ENST00000379484.9:c.402_407del | ENSP00000368798.5:p.Ser135_Ser136del | |
| ENST00000465888.1:n.501_506del | ||
| NM_015884.3:c.402_407del | NP_056968.1:p.Ser135_Ser136del | |
| NM_015884.4:c.402_407del MANE Select | NP_056968.1:p.Ser135_Ser136del |