Linked Data
ClinVar Variation Id:
133645
dbSNP Id:
rs398123423
ExAC:
X:76907781 T / TTCC
gnomAD v2:
X-76907781-T-TTCC
gnomAD v3:
X-77652291-T-TTCC
gnomAD v4:
X-77652291-T-TTCC
MyVariant Identifiers:
chrX:g.76907785_76907787dupTCC (hg19)
chrX:g.76907787_76907788insTCC (hg19)
chrX:g.76907784_76907785insTCC (hg19)
chrX:g.76907781_76907782insTCC (hg19)
chrX:g.77652295_77652297dupTCC (hg38)
chrX:g.77652291_77652292insTCC (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652306_77652308dup , CM000685.2:g.77652306_77652308dup | GRCh38 |
| NC_000023.10:g.76907796_76907798dup , CM000685.1:g.76907796_76907798dup | GRCh37 |
| NC_000023.9:g.76794452_76794454dup | NCBI36 |
| NG_008838.2:g.138928_138930dup | |
| NG_008838.3:g.138976_138978dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4377_4379dup MANE Select | ENSP00000362441.4:p.Glu1460_Glu1461insGlu | |
| ENST00000373344.9:c.4377_4379dup | ENSP00000362441.4:p.Glu1460_Glu1461insGlu | |
| ENST00000395603.7:c.4263_4265dup | ENSP00000378967.3:p.Glu1422_Glu1423insGlu | |
| ENST00000480283.5:c.*4005_*4007dup | ENSP00000480196.1:n.*4005_*4007dup | |
| NM_000489.4:c.4377_4379dup | NP_000480.3:p.Glu1460_Glu1461insGlu | |
| NM_138270.3:c.4263_4265dup | NP_612114.2:p.Glu1422_Glu1423insGlu | |
| XM_005262153.3:c.4374_4376dup | XP_005262210.2:p.Glu1459_Glu1460insGlu | |
| XM_005262154.3:c.4290_4292dup | XP_005262211.2:p.Glu1431_Glu1432insGlu | |
| XM_005262155.3:c.4260_4262dup | XP_005262212.2:p.Glu1421_Glu1422insGlu | |
| XM_005262156.3:c.4212_4214dup | XP_005262213.2:p.Glu1405_Glu1406insGlu | |
| XM_005262157.3:c.4173_4175dup | XP_005262214.2:p.Glu1392_Glu1393insGlu | |
| XM_006724666.2:c.4260_4262dup | XP_006724729.1:p.Glu1421_Glu1422insGlu | |
| XM_006724667.2:c.4098_4100dup | XP_006724730.1:p.Glu1367_Glu1368insGlu | |
| XM_006724668.2:c.4377_4379dup | XP_006724731.1:p.Glu1460_Glu1461insGlu | |
| XR_938400.1:n.4645_4647dup | ||
| NM_000489.5:c.4377_4379dup | NP_000480.3:p.Glu1460_Glu1461insGlu | |
| XM_005262153.5:c.4374_4376dup | XP_005262210.2:p.Glu1459_Glu1460insGlu | |
| XM_005262154.5:c.4290_4292dup | XP_005262211.2:p.Glu1431_Glu1432insGlu | |
| XM_005262155.4:c.4260_4262dup | XP_005262212.2:p.Glu1421_Glu1422insGlu | |
| XM_005262156.4:c.4212_4214dup | XP_005262213.2:p.Glu1405_Glu1406insGlu | |
| XM_005262157.5:c.4173_4175dup | XP_005262214.2:p.Glu1392_Glu1393insGlu | |
| XM_006724666.4:c.4260_4262dup | XP_006724729.1:p.Glu1421_Glu1422insGlu | |
| XM_006724667.3:c.4098_4100dup | XP_006724730.1:p.Glu1367_Glu1368insGlu | |
| XM_006724668.3:c.4377_4379dup | XP_006724731.1:p.Glu1460_Glu1461insGlu | |
| XM_017029601.2:c.4287_4289dup | XP_016885090.1:p.Glu1430_Glu1431insGlu | |
| XM_017029602.1:c.4257_4259dup | XP_016885091.1:p.Glu1420_Glu1421insGlu | |
| XM_017029603.1:c.4209_4211dup | XP_016885092.1:p.Glu1404_Glu1405insGlu | |
| XM_017029604.2:c.4176_4178dup | XP_016885093.1:p.Glu1393_Glu1394insGlu | |
| XM_017029605.1:c.4173_4175dup | XP_016885094.1:p.Glu1392_Glu1393insGlu | |
| XM_017029606.2:c.4146_4148dup | XP_016885095.1:p.Glu1383_Glu1384insGlu | |
| XM_017029607.2:c.4143_4145dup | XP_016885096.1:p.Glu1382_Glu1383insGlu | |
| XM_017029608.2:c.4095_4097dup | XP_016885097.1:p.Glu1366_Glu1367insGlu | |
| XM_017029609.1:c.4059_4061dup | XP_016885098.1:p.Glu1354_Glu1355insGlu | |
| XM_017029610.1:c.4056_4058dup | XP_016885099.1:p.Glu1353_Glu1354insGlu | |
| XM_017029611.1:c.4011_4013dup | XP_016885100.1:p.Glu1338_Glu1339insGlu | |
| XR_001755700.2:n.4602_4604dup | ||
| NM_138270.4:c.4263_4265dup | NP_612114.2:p.Glu1422_Glu1423insGlu | |
| NM_000489.6:c.4377_4379dup MANE Select | NP_000480.3:p.Glu1460_Glu1461insGlu | |
| NM_138270.5:c.4263_4265dup | NP_612114.2:p.Glu1422_Glu1423insGlu |