Linked Data
dbSNP Id:
rs59360802
gnomAD v2:
X-70775029-T-TGTGTGTGTGTG
gnomAD v3:
X-71555179-T-TGTGTGTGTGTG
gnomAD v4:
X-71555179-T-TGTGTGTGTGTG
MyVariant Identifiers:
chrX:g.70775029_70775030insGTGTGTGTGTG (hg19)
chrX:g.71555179_71555180insGTGTGTGTGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71555179_71555180insGTGTGTGTGTG , CM000685.2:g.71555179_71555180insGTGTGTGTGTG | GRCh38 |
| NC_000023.10:g.70775029_70775030insGTGTGTGTGTG , CM000685.1:g.70775029_70775030insGTGTGTGTGTG | GRCh37 |
| NC_000023.9:g.70691754_70691755insGTGTGTGTGTG | NCBI36 |
| NG_015875.1:g.27118_27119insGTGTGTGTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699749.1:c.660-11_660-10insGTGTGTGTGTG | ENSP00000514559.1:n.660-11_660-10insGTGTGTGTGTG | |
| ENST00000699750.1:c.*588-11_*588-10insGTGTGTGTGTG | ENSP00000514560.1:n.*588-11_*588-10insGTGTGTGTGTG | |
| ENST00000699751.1:n.1278+587_1278+588insGTGTGTGTGTG | ||
| ENST00000699779.1:c.*3597-11_*3597-10insGTGTGTGTGTG | ENSP00000514585.1:n.*3597-11_*3597-10insGTGTGTGTGTG | |
| ENST00000699780.1:c.728+587_728+588insGTGTGTGTGTG | ENSP00000514586.1:n.728+587_728+588insGTGTGTGTGTG | |
| ENST00000699781.1:c.*332+587_*332+588insGTGTGTGTGTG | ENSP00000514587.1:n.*332+587_*332+588insGTGTGTGTGTG | |
| ENST00000699782.1:c.630-11_630-10insGTGTGTGTGTG | ENSP00000514588.1:n.630-11_630-10insGTGTGTGTGTG | |
| ENST00000699783.1:c.699-11_699-10insGTGTGTGTGTG | ENSP00000514589.1:n.699-11_699-10insGTGTGTGTGTG | |
| ENST00000699784.1:c.699-11_699-10insGTGTGTGTGTG | ENSP00000514590.1:n.699-11_699-10insGTGTGTGTGTG | |
| ENST00000699785.1:c.*734-11_*734-10insGTGTGTGTGTG | ENSP00000514591.1:n.*734-11_*734-10insGTGTGTGTGTG | |
| ENST00000373719.8:c.729-11_729-10insGTGTGTGTGTG MANE Select | ENSP00000362824.3:n.729-11_729-10insGTGTGTGTGTG | |
| ENST00000373701.7:c.699-11_699-10insGTGTGTGTGTG | ENSP00000362805.3:n.699-11_699-10insGTGTGTGTGTG | |
| ENST00000373719.7:c.729-11_729-10insGTGTGTGTGTG | ENSP00000362824.3:n.729-11_729-10insGTGTGTGTGTG | |
| ENST00000455587.3:n.608-11_608-10insGTGTGTGTGTG | ||
| ENST00000459760.1:n.106-11_106-10insGTGTGTGTGTG | ||
| ENST00000488174.5:n.4165+587_4165+588insGTGTGTGTGTG | ||
| NM_181672.2:c.729-11_729-10insGTGTGTGTGTG | NP_858058.1:n.729-11_729-10insGTGTGTGTGTG | |
| NM_181673.2:c.699-11_699-10insGTGTGTGTGTG | NP_858059.1:n.699-11_699-10insGTGTGTGTGTG | |
| XM_005262308.1:c.-220+587_-220+588insGTGTGTGTGTG | XP_005262365.1:n.-220+587_-220+588insGTGTGTGTGTG | |
| XM_017029908.1:c.-220+587_-220+588insGTGTGTGTGTG | XP_016885397.1:n.-220+587_-220+588insGTGTGTGTGTG | |
| XM_024452467.1:c.-220+587_-220+588insGTGTGTGTGTG | XP_024308235.1:n.-220+587_-220+588insGTGTGTGTGTG | |
| NM_181672.3:c.729-11_729-10insGTGTGTGTGTG MANE Select | NP_858058.1:n.729-11_729-10insGTGTGTGTGTG | |
| NM_181673.3:c.699-11_699-10insGTGTGTGTGTG | NP_858059.1:n.699-11_699-10insGTGTGTGTGTG |