Linked Data
gnomAD v2:
X-53264313-T-TGGGGGGGGG
gnomAD v3:
X-53235131-T-TGGGGGGGGG
gnomAD v4:
X-53235131-T-TGGGGGGGGG
MyVariant Identifiers:
chrX:g.53264313_53264314insGGGGGGGGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235136_53235137insGGGGGGGGG , CM000685.2:g.53235136_53235137insGGGGGGGGG | GRCh38 |
| NC_000023.10:g.53264318_53264319insGGGGGGGGG , CM000685.1:g.53264318_53264319insGGGGGGGGG | GRCh37 |
| NC_000023.9:g.53281043_53281044insGGGGGGGGG | NCBI36 |
| NG_021296.1:g.91209_91210insCCCCCCCCC | |
| NG_021296.2:g.91219_91220insCCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3713_3714insCCCCCCCCC | ENSP00000516672.1:p.Pro1238_Pro1239insProProPro | |
| ENST00000638521.1:c.1453+651_1453+652insCCCCCCCCC | ||
| ENST00000638869.1:c.962+651_962+652insCCCCCCCCC | ||
| ENST00000639796.1:c.316+1190_316+1191insCCCCCCCCC | ENSP00000492252.1:n.316+1190_316+1191insCCCCCCCCC | |
| ENST00000640005.1:c.514+1190_514+1191insCCCCCCCCC | ENSP00000491293.1:n.514+1190_514+1191insCCCCCCCCC | |
| ENST00000640436.1:n.534_535insCCCCCCCCC | ||
| ENST00000640694.1:c.*39_*40insCCCCCCCCC | ENSP00000492403.1:n.*39_*40insCCCCCCCCC | |
| ENST00000642864.1:c.3554_3555insCCCCCCCCC MANE Select | ENSP00000495726.1:p.Pro1185_Pro1186insProProPro | |
| ENST00000674510.1:c.3554_3555insCCCCCCCCC | ENSP00000502054.1:p.Pro1185_Pro1186insProProPro | |
| ENST00000675719.1:c.3524_3525insCCCCCCCCC | ENSP00000501927.1:p.Pro1175_Pro1176insProProPro | |
| ENST00000375365.2:c.*39_*40insCCCCCCCCC | ENSP00000364514.2:n.*39_*40insCCCCCCCCC | |
| ENST00000396435.7:c.3554_3555insCCCCCCCCC | ENSP00000379712.3:p.Pro1185_Pro1186insProProPro | |
| NM_001111125.2:c.3554_3555insCCCCCCCCC | NP_001104595.1:p.Pro1185_Pro1186insProProPro | |
| NM_015075.1:c.*39_*40insCCCCCCCCC | NP_055890.1:n.*39_*40insCCCCCCCCC | |
| XM_006724579.2:c.3650_3651insCCCCCCCCC | XP_006724642.1:p.Pro1217_Pro1218insProProPro | |
| XM_006724580.2:c.2939_2940insCCCCCCCCC | XP_006724643.1:p.Pro980_Pro981insProProPro | |
| XM_006724581.2:c.3597+651_3597+652insCCCCCCCCC | XP_006724644.1:n.3597+651_3597+652insCCCCCCCCC | |
| XM_006724582.2:c.3597+651_3597+652insCCCCCCCCC | XP_006724645.1:n.3597+651_3597+652insCCCCCCCCC | |
| XM_006724583.2:c.3547+1190_3547+1191insCCCCCCCCC | XP_006724646.1:n.3547+1190_3547+1191insCCCCCCCCC | |
| XM_006724584.2:c.*39_*40insCCCCCCCCC | XP_006724647.1:n.*39_*40insCCCCCCCCC | |
| XM_011530772.1:c.2876_2877insCCCCCCCCC | XP_011529074.1:p.Pro959_Pro960insProProPro | |
| XM_011530773.1:c.2843_2844insCCCCCCCCC | XP_011529075.1:p.Pro948_Pro949insProProPro | |
| XM_011530775.1:c.3547+1190_3547+1191insCCCCCCCCC | XP_011529077.1:n.3547+1190_3547+1191insCCCCCCCCC | |
| XM_006724579.3:c.3650_3651insCCCCCCCCC | XP_006724642.1:p.Pro1217_Pro1218insProProPro | |
| XM_006724580.3:c.2939_2940insCCCCCCCCC | XP_006724643.1:p.Pro980_Pro981insProProPro | |
| XM_006724581.4:c.3597+651_3597+652insCCCCCCCCC | XP_006724644.1:n.3597+651_3597+652insCCCCCCCCC | |
| XM_006724582.4:c.3597+651_3597+652insCCCCCCCCC | XP_006724645.1:n.3597+651_3597+652insCCCCCCCCC | |
| XM_006724583.4:c.3547+1190_3547+1191insCCCCCCCCC | XP_006724646.1:n.3547+1190_3547+1191insCCCCCCCCC | |
| XM_006724584.3:c.*39_*40insCCCCCCCCC | XP_006724647.1:n.*39_*40insCCCCCCCCC | |
| XM_011530773.2:c.2843_2844insCCCCCCCCC | XP_011529075.1:p.Pro948_Pro949insProProPro | |
| XM_017029359.2:c.3524_3525insCCCCCCCCC | XP_016884848.1:p.Pro1175_Pro1176insProProPro | |
| XM_017029360.1:c.3056_3057insCCCCCCCCC | XP_016884849.1:p.Pro1019_Pro1020insProProPro | |
| NM_001111125.3:c.3554_3555insCCCCCCCCC MANE Select | NP_001104595.1:p.Pro1185_Pro1186insProProPro | |
| NM_015075.2:c.*39_*40insCCCCCCCCC | NP_055890.1:n.*39_*40insCCCCCCCCC |