Linked Data
ClinVar Variation Id:
2893519
ClinVar RCV Id:
RCV003732866
dbSNP Id:
rs779572550
ExAC:
X:21863451 TTCA / T
gnomAD v2:
X-21863451-TTCA-T
gnomAD v3:
X-21845333-TTCA-T
gnomAD v4:
X-21845333-TTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845336_21845338del , CM000685.2:g.21845336_21845338del | GRCh38 |
| NC_000023.10:g.21863454_21863456del , CM000685.1:g.21863454_21863456del | GRCh37 |
| NC_000023.9:g.21773375_21773377del | NCBI36 |
| NG_012797.1:g.10799_10801del | |
| NG_012797.2:g.10799_10801del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.390_392del MANE Select | ENSP00000368798.5:p.Ser131del | |
| ENST00000365779.2:c.390_392del | ENSP00000368796.1:p.Ser131del | |
| ENST00000379484.9:c.390_392del | ENSP00000368798.5:p.Ser131del | |
| ENST00000465888.1:n.489_491del | ||
| NM_015884.3:c.390_392del | NP_056968.1:p.Ser131del | |
| NM_015884.4:c.390_392del MANE Select | NP_056968.1:p.Ser131del |