Linked Data
ClinVar Variation Id:
9859
ClinVar RCV Id:
RCV000010534
dbSNP Id:
rs869320732
MyVariant Identifiers:
chrX:g.66937427_66937433delinsTTCGCCCCTGA (hg19)
chrX:g.67717585_67717591delinsTTCGCCCCTGA (hg38)
PubMed:
PMID:12908100
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717585_67717591delinsTTCGCCCCTGA , CM000685.2:g.67717585_67717591delinsTTCGCCCCTGA | GRCh38 |
| NC_000023.10:g.66937427_66937433delinsTTCGCCCCTGA , CM000685.1:g.66937427_66937433delinsTTCGCCCCTGA | GRCh37 |
| NC_000023.9:g.66854152_66854158delinsTTCGCCCCTGA | NCBI36 |
| NG_009014.2:g.178554_178560delinsTTCGCCCCTGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*629_*635delinsTTCGCCCCTGA | ENSP00000379358.4:n.*629_*635delinsTTCGCC... | |
| ENST00000374690.9:c.2281_2287delinsTTCGCCCCTGA MANE Select | ENSP00000363822.3:p.Arg761PhefsTer9 | |
| ENST00000396043.3:c.908_914delinsTTCGCCCCTGA | ENSP00000379358.3:n.908_914delinsTTCGCCCC... | |
| ENST00000396044.8:c.2173+5896_2173+5902delinsTTCGCCCCTGA | ENSP00000379359.3:n.2173+5896_2173+5902de... | |
| ENST00000612452.5:c.2281_2287delinsTTCGCCCCTGA | ENSP00000484033.2:p.Arg761PhefsTer9 | |
| ENST00000374690.7:c.2281_2287delinsTTCGCCCCTGA | ENSP00000363822.3:p.Arg761PhefsTer9 | |
| ENST00000396043.2:c.685_691delinsTTCGCCCCTGA | ENSP00000379358.2:p.Arg229PhefsTer9 | |
| ENST00000396044.7:c.2173+5896_2173+5902delinsTTCGCCCCTGA | ENSP00000379359.3:n.2173+5896_2173+5902de... | |
| ENST00000612452.4:c.1711_1717delinsTTCGCCCCTGA | ENSP00000484033.1:p.Arg571PhefsTer9 | |
| NM_000044.3:c.2281_2287delinsTTCGCCCCTGA | NP_000035.2:p.Arg761PhefsTer9 | |
| NM_001011645.2:c.685_691delinsTTCGCCCCTGA | NP_001011645.1:p.Arg229PhefsTer9 | |
| NM_000044.4:c.2281_2287delinsTTCGCCCCTGA | NP_000035.2:p.Arg761PhefsTer9 | |
| NM_001011645.3:c.685_691delinsTTCGCCCCTGA | NP_001011645.1:p.Arg229PhefsTer9 | |
| NM_000044.6:c.2281_2287delinsTTCGCCCCTGA MANE Select | NP_000035.2:p.Arg761PhefsTer9 |