Linked Data
dbSNP Id:
rs745366914
ExAC:
X:70775019 T / TGTGTGC
gnomAD v2:
X-70775019-T-TGTGTGC
gnomAD v4:
X-71555169-T-TGTGTGC
MyVariant Identifiers:
chrX:g.70775019_70775020insGTGTGC (hg19)
chrX:g.71555169_71555170insGTGTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71555174_71555175insCGTGTG , CM000685.2:g.71555174_71555175insCGTGTG | GRCh38 |
| NC_000023.10:g.70775024_70775025insCGTGTG , CM000685.1:g.70775024_70775025insCGTGTG | GRCh37 |
| NC_000023.9:g.70691749_70691750insCGTGTG | NCBI36 |
| NG_015875.1:g.27113_27114insCGTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699749.1:c.660-16_660-15insCGTGTG | ENSP00000514559.1:n.660-16_660-15insCGTGTG | |
| ENST00000699750.1:c.*588-16_*588-15insCGTGTG | ENSP00000514560.1:n.*588-16_*588-15insCGTGTG | |
| ENST00000699751.1:n.1278+582_1278+583insCGTGTG | ||
| ENST00000699779.1:c.*3597-16_*3597-15insCGTGTG | ENSP00000514585.1:n.*3597-16_*3597-15insCGTGTG | |
| ENST00000699780.1:c.728+582_728+583insCGTGTG | ENSP00000514586.1:n.728+582_728+583insCGTGTG | |
| ENST00000699781.1:c.*332+582_*332+583insCGTGTG | ENSP00000514587.1:n.*332+582_*332+583insCGTGTG | |
| ENST00000699782.1:c.630-16_630-15insCGTGTG | ENSP00000514588.1:n.630-16_630-15insCGTGTG | |
| ENST00000699783.1:c.699-16_699-15insCGTGTG | ENSP00000514589.1:n.699-16_699-15insCGTGTG | |
| ENST00000699784.1:c.699-16_699-15insCGTGTG | ENSP00000514590.1:n.699-16_699-15insCGTGTG | |
| ENST00000699785.1:c.*734-16_*734-15insCGTGTG | ENSP00000514591.1:n.*734-16_*734-15insCGTGTG | |
| ENST00000373719.8:c.729-16_729-15insCGTGTG MANE Select | ENSP00000362824.3:n.729-16_729-15insCGTGTG | |
| ENST00000373701.7:c.699-16_699-15insCGTGTG | ENSP00000362805.3:n.699-16_699-15insCGTGTG | |
| ENST00000373719.7:c.729-16_729-15insCGTGTG | ENSP00000362824.3:n.729-16_729-15insCGTGTG | |
| ENST00000455587.3:n.608-16_608-15insCGTGTG | ||
| ENST00000459760.1:n.106-16_106-15insCGTGTG | ||
| ENST00000488174.5:n.4165+582_4165+583insCGTGTG | ||
| NM_181672.2:c.729-16_729-15insCGTGTG | NP_858058.1:n.729-16_729-15insCGTGTG | |
| NM_181673.2:c.699-16_699-15insCGTGTG | NP_858059.1:n.699-16_699-15insCGTGTG | |
| XM_005262308.1:c.-220+582_-220+583insCGTGTG | XP_005262365.1:n.-220+582_-220+583insCGTGTG | |
| XM_017029908.1:c.-220+582_-220+583insCGTGTG | XP_016885397.1:n.-220+582_-220+583insCGTGTG | |
| XM_024452467.1:c.-220+582_-220+583insCGTGTG | XP_024308235.1:n.-220+582_-220+583insCGTGTG | |
| NM_181672.3:c.729-16_729-15insCGTGTG MANE Select | NP_858058.1:n.729-16_729-15insCGTGTG | |
| NM_181673.3:c.699-16_699-15insCGTGTG | NP_858059.1:n.699-16_699-15insCGTGTG |