Linked Data
ClinVar Variation Id:
95443
ClinVar RCV Id:
RCV000081468
dbSNP Id:
rs398124239
MyVariant Identifiers:
chrX:g.46713439del (hg19)
chrX:g.46713439delC (hg19)
chrX:g.46854004del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46854004del , CM000685.2:g.46854004del | GRCh38 |
| NC_000023.10:g.46713439del , CM000685.1:g.46713439del | GRCh37 |
| NC_000023.9:g.46598383del | NCBI36 |
| NG_009107.1:g.22093del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218340.4:c.631del MANE Select | ENSP00000218340.3:p.Arg211ValfsTer27 | |
| ENST00000218340.3:c.631del | ENSP00000218340.3:p.Arg211ValfsTer27 | |
| NM_006915.2:c.631del | NP_008846.2:p.Arg211ValfsTer27 | |
| NM_006915.3:c.631del MANE Select | NP_008846.2:p.Arg211ValfsTer27 |