Linked Data
ClinVar Variation Id:
99841
dbSNP Id:
rs281865194
gnomAD v2:
X-41332781-GGCCTGCGCCCGCGCTTGTCCCGCC-G
gnomAD v3:
X-41473528-GGCCTGCGCCCGCGCTTGTCCCGCC-G
gnomAD v4:
X-41473528-GGCCTGCGCCCGCGCTTGTCCCGCC-G
MyVariant Identifiers:
chrX:g.41332791_41332814del (hg19)
chrX:g.41332782_41332805del (hg19)
chrX:g.41473538_41473561del (hg38)
chrX:g.41473529_41473552del (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41473538_41473561del , CM000685.2:g.41473538_41473561del | GRCh38 |
| NC_000023.10:g.41332791_41332814del , CM000685.1:g.41332791_41332814del | GRCh37 |
| NC_000023.9:g.41217735_41217758del | NCBI36 |
| NG_009112.1:g.31079_31102del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.70_93del | ENSP00000340328.3:p.Arg24_Ala31del | |
| ENST00000378220.3:c.70_93del MANE Select | ENSP00000367465.2:p.Arg24_Ala31del | |
| ENST00000378220.2:c.85_108del | ENSP00000367465.1:p.Arg29_Ala36del | |
| ENST00000342595.2:c.85_108del | ENSP00000340328.2:p.Arg29_Ala36del | |
| ENST00000378220.1:c.85_108del | ENSP00000367465.1:p.Arg29_Ala36del | |
| ENST00000486842.1:n.323_346del | ||
| NM_022567.2:c.85_108del | NP_072089.1:p.Arg29_Ala36del | |
| XM_005272632.2:c.85_108del | XP_005272689.1:p.Arg29_Ala36del | |
| XM_017029709.1:c.85_108del | XP_016885198.1:p.Arg29_Ala36del | |
| NM_001378477.3:c.70_93del MANE Select | NP_001365406.2:p.Arg24_Ala31del | |
| NM_022567.3:c.70_93del | NP_072089.2:p.Arg24_Ala31del |