Linked Data
ClinVar Variation Id:
591243
ClinVar RCV Id:
RCV000722421
dbSNP Id:
rs1337491993
gnomAD v3:
X-21845315-TTCTTCC-T
gnomAD v4:
X-21845315-TTCTTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845327_21845332del , CM000685.2:g.21845327_21845332del | GRCh38 |
| NC_000023.10:g.21863445_21863450del , CM000685.1:g.21863445_21863450del | GRCh37 |
| NC_000023.9:g.21773366_21773371del | NCBI36 |
| NG_012797.1:g.10790_10795del | |
| NG_012797.2:g.10790_10795del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.381_386del MANE Select | ENSP00000368798.5:p.Ser128_Ser129del | |
| ENST00000365779.2:c.381_386del | ENSP00000368796.1:p.Ser128_Ser129del | |
| ENST00000379484.9:c.381_386del | ENSP00000368798.5:p.Ser128_Ser129del | |
| ENST00000465888.1:n.480_485del | ||
| NM_015884.3:c.381_386del | NP_056968.1:p.Ser128_Ser129del | |
| NM_015884.4:c.381_386del MANE Select | NP_056968.1:p.Ser128_Ser129del |