Linked Data
dbSNP Id:
rs781901262
gnomAD v2:
X-76907772-C-CTCCTCCTCT
gnomAD v4:
X-77652282-C-CTCCTCCTCT
MyVariant Identifiers:
chrX:g.76907772_76907773insTCCTCCTCT (hg19)
chrX:g.77652282_77652283insTCCTCCTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652291_77652299dup , CM000685.2:g.77652291_77652299dup | GRCh38 |
| NC_000023.10:g.76907781_76907789dup , CM000685.1:g.76907781_76907789dup | GRCh37 |
| NC_000023.9:g.76794437_76794445dup | NCBI36 |
| NG_008838.2:g.138931_138939dup | |
| NG_008838.3:g.138979_138987dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4380_4388dup MANE Select | ENSP00000362441.4:p.Glu1463_Glu1464insGluGluGlu | |
| ENST00000373344.9:c.4380_4388dup | ENSP00000362441.4:p.Glu1463_Glu1464insGluGluGlu | |
| ENST00000395603.7:c.4266_4274dup | ENSP00000378967.3:p.Glu1425_Glu1426insGluGluGlu | |
| ENST00000480283.5:c.*4008_*4016dup | ENSP00000480196.1:n.*4008_*4016dup | |
| NM_000489.4:c.4380_4388dup | NP_000480.3:p.Glu1463_Glu1464insGluGluGlu | |
| NM_138270.3:c.4266_4274dup | NP_612114.2:p.Glu1425_Glu1426insGluGluGlu | |
| XM_005262153.3:c.4377_4385dup | XP_005262210.2:p.Glu1462_Glu1463insGluGluGlu | |
| XM_005262154.3:c.4293_4301dup | XP_005262211.2:p.Glu1434_Glu1435insGluGluGlu | |
| XM_005262155.3:c.4263_4271dup | XP_005262212.2:p.Glu1424_Glu1425insGluGluGlu | |
| XM_005262156.3:c.4215_4223dup | XP_005262213.2:p.Glu1408_Glu1409insGluGluGlu | |
| XM_005262157.3:c.4176_4184dup | XP_005262214.2:p.Glu1395_Glu1396insGluGluGlu | |
| XM_006724666.2:c.4263_4271dup | XP_006724729.1:p.Glu1424_Glu1425insGluGluGlu | |
| XM_006724667.2:c.4101_4109dup | XP_006724730.1:p.Glu1370_Glu1371insGluGluGlu | |
| XM_006724668.2:c.4380_4388dup | XP_006724731.1:p.Glu1463_Glu1464insGluGluGlu | |
| XR_938400.1:n.4648_4656dup | ||
| NM_000489.5:c.4380_4388dup | NP_000480.3:p.Glu1463_Glu1464insGluGluGlu | |
| XM_005262153.5:c.4377_4385dup | XP_005262210.2:p.Glu1462_Glu1463insGluGluGlu | |
| XM_005262154.5:c.4293_4301dup | XP_005262211.2:p.Glu1434_Glu1435insGluGluGlu | |
| XM_005262155.4:c.4263_4271dup | XP_005262212.2:p.Glu1424_Glu1425insGluGluGlu | |
| XM_005262156.4:c.4215_4223dup | XP_005262213.2:p.Glu1408_Glu1409insGluGluGlu | |
| XM_005262157.5:c.4176_4184dup | XP_005262214.2:p.Glu1395_Glu1396insGluGluGlu | |
| XM_006724666.4:c.4263_4271dup | XP_006724729.1:p.Glu1424_Glu1425insGluGluGlu | |
| XM_006724667.3:c.4101_4109dup | XP_006724730.1:p.Glu1370_Glu1371insGluGluGlu | |
| XM_006724668.3:c.4380_4388dup | XP_006724731.1:p.Glu1463_Glu1464insGluGluGlu | |
| XM_017029601.2:c.4290_4298dup | XP_016885090.1:p.Glu1433_Glu1434insGluGluGlu | |
| XM_017029602.1:c.4260_4268dup | XP_016885091.1:p.Glu1423_Glu1424insGluGluGlu | |
| XM_017029603.1:c.4212_4220dup | XP_016885092.1:p.Glu1407_Glu1408insGluGluGlu | |
| XM_017029604.2:c.4179_4187dup | XP_016885093.1:p.Glu1396_Glu1397insGluGluGlu | |
| XM_017029605.1:c.4176_4184dup | XP_016885094.1:p.Glu1395_Glu1396insGluGluGlu | |
| XM_017029606.2:c.4149_4157dup | XP_016885095.1:p.Glu1386_Glu1387insGluGluGlu | |
| XM_017029607.2:c.4146_4154dup | XP_016885096.1:p.Glu1385_Glu1386insGluGluGlu | |
| XM_017029608.2:c.4098_4106dup | XP_016885097.1:p.Glu1369_Glu1370insGluGluGlu | |
| XM_017029609.1:c.4062_4070dup | XP_016885098.1:p.Glu1357_Glu1358insGluGluGlu | |
| XM_017029610.1:c.4059_4067dup | XP_016885099.1:p.Glu1356_Glu1357insGluGluGlu | |
| XM_017029611.1:c.4014_4022dup | XP_016885100.1:p.Glu1341_Glu1342insGluGluGlu | |
| XR_001755700.2:n.4605_4613dup | ||
| NM_138270.4:c.4266_4274dup | NP_612114.2:p.Glu1425_Glu1426insGluGluGlu | |
| NM_000489.6:c.4380_4388dup MANE Select | NP_000480.3:p.Glu1463_Glu1464insGluGluGlu | |
| NM_138270.5:c.4266_4274dup | NP_612114.2:p.Glu1425_Glu1426insGluGluGlu |