Linked Data
dbSNP Id:
rs2063350133
gnomAD v2:
X-41089610-TCCCCAAG-T
gnomAD v3:
X-41230357-TCCCCAAG-T
gnomAD v4:
X-41230357-TCCCCAAG-T
MyVariant Identifiers:
chrX:g.41089611_41089620delinsTTC (hg19)
chrX:g.41230358_41230367delinsTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41230358_41230364del , CM000685.2:g.41230358_41230364del | GRCh38 |
| NC_000023.10:g.41089611_41089617del , CM000685.1:g.41089611_41089617del | GRCh37 |
| NC_000023.9:g.40974555_40974561del | NCBI36 |
| NG_012547.1:g.149724_149730del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703986.1:c.7447-143_7447-137del | ENSP00000515603.1:n.7447-143_7447-137del | |
| ENST00000703987.1:c.7495-143_7495-137del | ENSP00000515604.1:n.7495-143_7495-137del | |
| ENST00000704649.1:c.3685-2029_3685-2023del | ENSP00000515974.1:n.3685-2029_3685-2023del | |
| ENST00000704650.1:c.7432-143_7432-137del | ENSP00000515975.1:n.7432-143_7432-137del | |
| ENST00000704651.1:c.7279-143_7279-137del | ENSP00000515976.1:n.7279-143_7279-137del | |
| ENST00000704652.1:c.6531-143_6531-137del | ||
| ENST00000704654.1:c.4311-143_4311-137del | ||
| ENST00000704655.1:c.3575-143_3575-137del | ENSP00000515980.1:n.3575-143_3575-137del | |
| ENST00000704656.1:c.2883-143_2883-137del | ENSP00000515981.1:n.2883-143_2883-137del | |
| ENST00000324545.9:c.7480-143_7480-137del | ENSP00000316357.6:n.7480-143_7480-137del | |
| ENST00000378308.7:c.7432-143_7432-137del MANE Select | ENSP00000367558.2:n.7432-143_7432-137del | |
| ENST00000324545.8:c.7480-143_7480-137del | ENSP00000316357.6:n.7480-143_7480-137del | |
| ENST00000378308.6:c.7432-143_7432-137del | ENSP00000367558.2:n.7432-143_7432-137del | |
| NM_001039590.2:c.7480-143_7480-137del | NP_001034679.2:n.7480-143_7480-137del | |
| NM_001039591.2:c.7432-143_7432-137del | NP_001034680.2:n.7432-143_7432-137del | |
| XM_005272675.3:c.7495-143_7495-137del | XP_005272732.1:n.7495-143_7495-137del | |
| XM_005272676.3:c.7447-143_7447-137del | XP_005272733.1:n.7447-143_7447-137del | |
| XM_005272675.4:c.7495-143_7495-137del | XP_005272732.1:n.7495-143_7495-137del | |
| XM_005272676.4:c.7447-143_7447-137del | XP_005272733.1:n.7447-143_7447-137del | |
| NM_001039591.3:c.7432-143_7432-137del MANE Select | NP_001034680.2:n.7432-143_7432-137del | |
| NM_001039590.3:c.7480-143_7480-137del | NP_001034679.2:n.7480-143_7480-137del |