Linked Data
gnomAD v2:
X-53264304-C-CGGGGGG
gnomAD v4:
X-53235122-C-CGGGGGG
MyVariant Identifiers:
chrX:g.53264304_53264305insGGGGGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235124_53235125insGGGGGG , CM000685.2:g.53235124_53235125insGGGGGG | GRCh38 |
| NC_000023.10:g.53264306_53264307insGGGGGG , CM000685.1:g.53264306_53264307insGGGGGG | GRCh37 |
| NC_000023.9:g.53281031_53281032insGGGGGG | NCBI36 |
| NG_021296.1:g.91218_91219insCCCCCC | |
| NG_021296.2:g.91228_91229insCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3722_3723insCCCCCC | ENSP00000516672.1:p.Pro1241_Pro1242insProPro | |
| ENST00000638521.1:c.1453+660_1453+661insCCCCCC | ||
| ENST00000638869.1:c.962+660_962+661insCCCCCC | ||
| ENST00000639796.1:c.316+1199_316+1200insCCCCCC | ENSP00000492252.1:n.316+1199_316+1200insCCCCCC | |
| ENST00000640005.1:c.514+1199_514+1200insCCCCCC | ENSP00000491293.1:n.514+1199_514+1200insCCCCCC | |
| ENST00000640436.1:n.543_544insCCCCCC | ||
| ENST00000640694.1:c.*48_*49insCCCCCC | ENSP00000492403.1:n.*48_*49insCCCCCC | |
| ENST00000642864.1:c.3563_3564insCCCCCC MANE Select | ENSP00000495726.1:p.Pro1188_Pro1189insProPro | |
| ENST00000674510.1:c.3563_3564insCCCCCC | ENSP00000502054.1:p.Pro1188_Pro1189insProPro | |
| ENST00000675719.1:c.3533_3534insCCCCCC | ENSP00000501927.1:p.Pro1178_Pro1179insProPro | |
| ENST00000375365.2:c.*48_*49insCCCCCC | ENSP00000364514.2:n.*48_*49insCCCCCC | |
| ENST00000396435.7:c.3563_3564insCCCCCC | ENSP00000379712.3:p.Pro1188_Pro1189insProPro | |
| NM_001111125.2:c.3563_3564insCCCCCC | NP_001104595.1:p.Pro1188_Pro1189insProPro | |
| NM_015075.1:c.*48_*49insCCCCCC | NP_055890.1:n.*48_*49insCCCCCC | |
| XM_006724579.2:c.3659_3660insCCCCCC | XP_006724642.1:p.Pro1220_Pro1221insProPro | |
| XM_006724580.2:c.2948_2949insCCCCCC | XP_006724643.1:p.Pro983_Pro984insProPro | |
| XM_006724581.2:c.3597+660_3597+661insCCCCCC | XP_006724644.1:n.3597+660_3597+661insCCCCCC | |
| XM_006724582.2:c.3597+660_3597+661insCCCCCC | XP_006724645.1:n.3597+660_3597+661insCCCCCC | |
| XM_006724583.2:c.3547+1199_3547+1200insCCCCCC | XP_006724646.1:n.3547+1199_3547+1200insCCCCCC | |
| XM_006724584.2:c.*48_*49insCCCCCC | XP_006724647.1:n.*48_*49insCCCCCC | |
| XM_011530772.1:c.2885_2886insCCCCCC | XP_011529074.1:p.Pro962_Pro963insProPro | |
| XM_011530773.1:c.2852_2853insCCCCCC | XP_011529075.1:p.Pro951_Pro952insProPro | |
| XM_011530775.1:c.3547+1199_3547+1200insCCCCCC | XP_011529077.1:n.3547+1199_3547+1200insCCCCCC | |
| XM_006724579.3:c.3659_3660insCCCCCC | XP_006724642.1:p.Pro1220_Pro1221insProPro | |
| XM_006724580.3:c.2948_2949insCCCCCC | XP_006724643.1:p.Pro983_Pro984insProPro | |
| XM_006724581.4:c.3597+660_3597+661insCCCCCC | XP_006724644.1:n.3597+660_3597+661insCCCCCC | |
| XM_006724582.4:c.3597+660_3597+661insCCCCCC | XP_006724645.1:n.3597+660_3597+661insCCCCCC | |
| XM_006724583.4:c.3547+1199_3547+1200insCCCCCC | XP_006724646.1:n.3547+1199_3547+1200insCCCCCC | |
| XM_006724584.3:c.*48_*49insCCCCCC | XP_006724647.1:n.*48_*49insCCCCCC | |
| XM_011530773.2:c.2852_2853insCCCCCC | XP_011529075.1:p.Pro951_Pro952insProPro | |
| XM_017029359.2:c.3533_3534insCCCCCC | XP_016884848.1:p.Pro1178_Pro1179insProPro | |
| XM_017029360.1:c.3065_3066insCCCCCC | XP_016884849.1:p.Pro1022_Pro1023insProPro | |
| NM_001111125.3:c.3563_3564insCCCCCC MANE Select | NP_001104595.1:p.Pro1188_Pro1189insProPro | |
| NM_015075.2:c.*48_*49insCCCCCC | NP_055890.1:n.*48_*49insCCCCCC |