Linked Data
dbSNP Id:
rs398123423
gnomAD v2:
X-76907781-TTCCTCC-T
gnomAD v3:
X-77652291-TTCCTCC-T
gnomAD v4:
X-77652291-TTCCTCC-T
MyVariant Identifiers:
chrX:g.76907782_76907787del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652303_77652308del , CM000685.2:g.77652303_77652308del | GRCh38 |
| NC_000023.10:g.76907793_76907798del , CM000685.1:g.76907793_76907798del | GRCh37 |
| NC_000023.9:g.76794449_76794454del | NCBI36 |
| NG_008838.2:g.138925_138930del | |
| NG_008838.3:g.138973_138978del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4374_4379del MANE Select | ENSP00000362441.4:p.Glu1459_Glu1460del | |
| ENST00000373344.9:c.4374_4379del | ENSP00000362441.4:p.Glu1459_Glu1460del | |
| ENST00000395603.7:c.4260_4265del | ENSP00000378967.3:p.Glu1421_Glu1422del | |
| ENST00000480283.5:c.*4002_*4007del | ENSP00000480196.1:n.*4002_*4007del | |
| NM_000489.4:c.4374_4379del | NP_000480.3:p.Glu1459_Glu1460del | |
| NM_138270.3:c.4260_4265del | NP_612114.2:p.Glu1421_Glu1422del | |
| XM_005262153.3:c.4371_4376del | XP_005262210.2:p.Glu1458_Glu1459del | |
| XM_005262154.3:c.4287_4292del | XP_005262211.2:p.Glu1430_Glu1431del | |
| XM_005262155.3:c.4257_4262del | XP_005262212.2:p.Glu1420_Glu1421del | |
| XM_005262156.3:c.4209_4214del | XP_005262213.2:p.Glu1404_Glu1405del | |
| XM_005262157.3:c.4170_4175del | XP_005262214.2:p.Glu1391_Glu1392del | |
| XM_006724666.2:c.4257_4262del | XP_006724729.1:p.Glu1420_Glu1421del | |
| XM_006724667.2:c.4095_4100del | XP_006724730.1:p.Glu1366_Glu1367del | |
| XM_006724668.2:c.4374_4379del | XP_006724731.1:p.Glu1459_Glu1460del | |
| XR_938400.1:n.4642_4647del | ||
| NM_000489.5:c.4374_4379del | NP_000480.3:p.Glu1459_Glu1460del | |
| XM_005262153.5:c.4371_4376del | XP_005262210.2:p.Glu1458_Glu1459del | |
| XM_005262154.5:c.4287_4292del | XP_005262211.2:p.Glu1430_Glu1431del | |
| XM_005262155.4:c.4257_4262del | XP_005262212.2:p.Glu1420_Glu1421del | |
| XM_005262156.4:c.4209_4214del | XP_005262213.2:p.Glu1404_Glu1405del | |
| XM_005262157.5:c.4170_4175del | XP_005262214.2:p.Glu1391_Glu1392del | |
| XM_006724666.4:c.4257_4262del | XP_006724729.1:p.Glu1420_Glu1421del | |
| XM_006724667.3:c.4095_4100del | XP_006724730.1:p.Glu1366_Glu1367del | |
| XM_006724668.3:c.4374_4379del | XP_006724731.1:p.Glu1459_Glu1460del | |
| XM_017029601.2:c.4284_4289del | XP_016885090.1:p.Glu1429_Glu1430del | |
| XM_017029602.1:c.4254_4259del | XP_016885091.1:p.Glu1419_Glu1420del | |
| XM_017029603.1:c.4206_4211del | XP_016885092.1:p.Glu1403_Glu1404del | |
| XM_017029604.2:c.4173_4178del | XP_016885093.1:p.Glu1392_Glu1393del | |
| XM_017029605.1:c.4170_4175del | XP_016885094.1:p.Glu1391_Glu1392del | |
| XM_017029606.2:c.4143_4148del | XP_016885095.1:p.Glu1382_Glu1383del | |
| XM_017029607.2:c.4140_4145del | XP_016885096.1:p.Glu1381_Glu1382del | |
| XM_017029608.2:c.4092_4097del | XP_016885097.1:p.Glu1365_Glu1366del | |
| XM_017029609.1:c.4056_4061del | XP_016885098.1:p.Glu1353_Glu1354del | |
| XM_017029610.1:c.4053_4058del | XP_016885099.1:p.Glu1352_Glu1353del | |
| XM_017029611.1:c.4008_4013del | XP_016885100.1:p.Glu1337_Glu1338del | |
| XR_001755700.2:n.4599_4604del | ||
| NM_138270.4:c.4260_4265del | NP_612114.2:p.Glu1421_Glu1422del | |
| NM_000489.6:c.4374_4379del MANE Select | NP_000480.3:p.Glu1459_Glu1460del | |
| NM_138270.5:c.4260_4265del | NP_612114.2:p.Glu1421_Glu1422del |