Linked Data
ClinVar Variation Id:
210335
ClinVar RCV Id:
RCV000192847
dbSNP Id:
rs797045303
MyVariant Identifiers:
chrX:g.25031549_25031550delinsTA (hg19)
chrX:g.25013432_25013433delinsTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013432_25013433delinsTA , CM000685.2:g.25013432_25013433delinsTA | GRCh38 |
| NC_000023.10:g.25031549_25031550delinsTA , CM000685.1:g.25031549_25031550delinsTA | GRCh37 |
| NC_000023.9:g.24941470_24941471delinsTA | NCBI36 |
| NG_008281.1:g.7516_7517delinsTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.562_563delinsTA MANE Select | ENSP00000368332.4:p.Ala188Ter | |
| ENST00000379044.4:c.562_563delinsTA | ENSP00000368332.4:p.Ala188Ter | |
| NM_139058.2:c.562_563delinsTA | NP_620689.1:p.Ala188Ter | |
| NM_139058.3:c.562_563delinsTA MANE Select | NP_620689.1:p.Ala188Ter |