Linked Data
ClinVar Variation Id:
210905
ClinVar RCV Id:
RCV000193635
dbSNP Id:
rs797045546
MyVariant Identifiers:
chrX:g.48385627_48385631delinsT (hg19)
chrX:g.48527239_48527243delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527239_48527243delinsT , CM000685.2:g.48527239_48527243delinsT | GRCh38 |
| NC_000023.10:g.48385627_48385631delinsT , CM000685.1:g.48385627_48385631delinsT | GRCh37 |
| NC_000023.9:g.48270571_48270575delinsT | NCBI36 |
| NG_007452.1:g.10464_10468delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.423_427delinsT MANE Select | ENSP00000417052.1:p.Arg142SerfsTer25 | |
| ENST00000651615.1:c.423_427delinsT | ENSP00000498524.1:p.Arg142SerfsTer29 | |
| ENST00000276096.10:n.381_385delinsT | ||
| ENST00000414061.1:c.423_427delinsT | ENSP00000405832.1:p.Arg142SerfsTer? | |
| ENST00000446158.5:c.423_427delinsT | ENSP00000390031.1:p.Arg142SerfsTer? | |
| ENST00000466461.1:n.262_266delinsT | ||
| ENST00000495186.5:c.423_427delinsT | ENSP00000417052.1:p.Arg142SerfsTer25 | |
| ENST00000498425.1:n.544_548delinsT | ||
| NM_006579.2:c.423_427delinsT | NP_006570.1:p.Arg142SerfsTer25 | |
| NM_006579.3:c.423_427delinsT MANE Select | NP_006570.1:p.Arg142SerfsTer25 |