Linked Data
gnomAD v2:
X-53264301-T-TGGG
gnomAD v4:
X-53235119-T-TGGG
MyVariant Identifiers:
chrX:g.53264301_53264302insGGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235121_53235122insGGG , CM000685.2:g.53235121_53235122insGGG | GRCh38 |
| NC_000023.10:g.53264303_53264304insGGG , CM000685.1:g.53264303_53264304insGGG | GRCh37 |
| NC_000023.9:g.53281028_53281029insGGG | NCBI36 |
| NG_021296.1:g.91221_91222insCCC | |
| NG_021296.2:g.91231_91232insCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3725_3726insCCC | ENSP00000516672.1:p.Pro1242_Glu1243insPro | |
| ENST00000638521.1:c.1453+663_1453+664insCCC | ||
| ENST00000638869.1:c.962+663_962+664insCCC | ||
| ENST00000639796.1:c.316+1202_316+1203insCCC | ENSP00000492252.1:n.316+1202_316+1203insCCC | |
| ENST00000640005.1:c.514+1202_514+1203insCCC | ENSP00000491293.1:n.514+1202_514+1203insCCC | |
| ENST00000640436.1:n.546_547insCCC | ||
| ENST00000640694.1:c.*51_*52insCCC | ENSP00000492403.1:n.*51_*52insCCC | |
| ENST00000642864.1:c.3566_3567insCCC MANE Select | ENSP00000495726.1:p.Pro1189_Glu1190insPro | |
| ENST00000674510.1:c.3566_3567insCCC | ENSP00000502054.1:p.Pro1189_Glu1190insPro | |
| ENST00000675719.1:c.3536_3537insCCC | ENSP00000501927.1:p.Pro1179_Glu1180insPro | |
| ENST00000375365.2:c.*51_*52insCCC | ENSP00000364514.2:n.*51_*52insCCC | |
| ENST00000396435.7:c.3566_3567insCCC | ENSP00000379712.3:p.Pro1189_Glu1190insPro | |
| NM_001111125.2:c.3566_3567insCCC | NP_001104595.1:p.Pro1189_Glu1190insPro | |
| NM_015075.1:c.*51_*52insCCC | NP_055890.1:n.*51_*52insCCC | |
| XM_006724579.2:c.3662_3663insCCC | XP_006724642.1:p.Pro1221_Glu1222insPro | |
| XM_006724580.2:c.2951_2952insCCC | XP_006724643.1:p.Pro984_Glu985insPro | |
| XM_006724581.2:c.3597+663_3597+664insCCC | XP_006724644.1:n.3597+663_3597+664insCCC | |
| XM_006724582.2:c.3597+663_3597+664insCCC | XP_006724645.1:n.3597+663_3597+664insCCC | |
| XM_006724583.2:c.3547+1202_3547+1203insCCC | XP_006724646.1:n.3547+1202_3547+1203insCCC | |
| XM_006724584.2:c.*51_*52insCCC | XP_006724647.1:n.*51_*52insCCC | |
| XM_011530772.1:c.2888_2889insCCC | XP_011529074.1:p.Pro963_Glu964insPro | |
| XM_011530773.1:c.2855_2856insCCC | XP_011529075.1:p.Pro952_Glu953insPro | |
| XM_011530775.1:c.3547+1202_3547+1203insCCC | XP_011529077.1:n.3547+1202_3547+1203insCCC | |
| XM_006724579.3:c.3662_3663insCCC | XP_006724642.1:p.Pro1221_Glu1222insPro | |
| XM_006724580.3:c.2951_2952insCCC | XP_006724643.1:p.Pro984_Glu985insPro | |
| XM_006724581.4:c.3597+663_3597+664insCCC | XP_006724644.1:n.3597+663_3597+664insCCC | |
| XM_006724582.4:c.3597+663_3597+664insCCC | XP_006724645.1:n.3597+663_3597+664insCCC | |
| XM_006724583.4:c.3547+1202_3547+1203insCCC | XP_006724646.1:n.3547+1202_3547+1203insCCC | |
| XM_006724584.3:c.*51_*52insCCC | XP_006724647.1:n.*51_*52insCCC | |
| XM_011530773.2:c.2855_2856insCCC | XP_011529075.1:p.Pro952_Glu953insPro | |
| XM_017029359.2:c.3536_3537insCCC | XP_016884848.1:p.Pro1179_Glu1180insPro | |
| XM_017029360.1:c.3068_3069insCCC | XP_016884849.1:p.Pro1023_Glu1024insPro | |
| NM_001111125.3:c.3566_3567insCCC MANE Select | NP_001104595.1:p.Pro1189_Glu1190insPro | |
| NM_015075.2:c.*51_*52insCCC | NP_055890.1:n.*51_*52insCCC |