Linked Data
ClinVar Variation Id:
11121
ClinVar RCV Id:
RCV000011870
dbSNP Id:
rs587776743
MyVariant Identifiers:
chrX:g.48544157_48544162dupACGAGG (hg19)
chrX:g.48685768_48685773dupACGAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48685768_48685773dup , CM000685.2:g.48685768_48685773dup | GRCh38 |
| NC_000023.10:g.48544157_48544162dup , CM000685.1:g.48544157_48544162dup | GRCh37 |
| NC_000023.9:g.48429101_48429106dup | NCBI36 |
| NG_007877.1:g.6972_6977dup , LRG_125:g.6972_6977dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000483750.6:n.428_433dup | ||
| ENST00000698625.1:c.395_400dup | ENSP00000513844.1:p.Glu133_Ala134insAspGl... | |
| ENST00000698626.1:c.395_400dup | ENSP00000513845.1:p.Glu133_Ala134insAspGl... | |
| ENST00000698635.1:c.395_400dup | ENSP00000513850.1:p.Glu133_Ala134insAspGl... | |
| ENST00000376701.5:c.395_400dup MANE Select | ENSP00000365891.4:p.Glu133_Ala134insAspGl... | |
| ENST00000376701.4:c.395_400dup | ENSP00000365891.4:p.Glu133_Ala134insAspGl... | |
| ENST00000450772.5:c.395_400dup | ENSP00000410537.1:p.Glu133_Ala134insAspGl... | |
| ENST00000465982.5:n.430_435dup | ||
| ENST00000483750.5:n.421_426dup | ||
| NM_000377.2:c.395_400dup , LRG_125t1:c.395_400dup | NP_000368.1:p.Glu133_Ala134insAspGlu | |
| XM_011543977.1:c.395_400dup | XP_011542279.1:p.Glu133_Ala134insAspGlu | |
| XM_011543977.2:c.395_400dup | XP_011542279.1:p.Glu133_Ala134insAspGlu | |
| XM_017029786.1:c.395_400dup | XP_016885275.1:p.Glu133_Ala134insAspGlu | |
| NM_000377.3:c.395_400dup MANE Select | NP_000368.1:p.Glu133_Ala134insAspGlu |