Linked Data
ClinVar Variation Id:
1526344
dbSNP Id:
rs782410402
ExAC:
X:76907817 TTCC / T
gnomAD v2:
X-76907817-TTCC-T
gnomAD v3:
X-77652327-TTCC-T
gnomAD v4:
X-77652327-TTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652333_77652335del , CM000685.2:g.77652333_77652335del | GRCh38 |
| NC_000023.10:g.76907823_76907825del , CM000685.1:g.76907823_76907825del | GRCh37 |
| NC_000023.9:g.76794479_76794481del | NCBI36 |
| NG_008838.2:g.138892_138894del | |
| NG_008838.3:g.138940_138942del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4341_4343del MANE Select | ENSP00000362441.4:p.Glu1448del | |
| ENST00000373344.9:c.4341_4343del | ENSP00000362441.4:p.Glu1448del | |
| ENST00000395603.7:c.4227_4229del | ENSP00000378967.3:p.Glu1410del | |
| ENST00000480283.5:c.*3969_*3971del | ENSP00000480196.1:n.*3969_*3971del | |
| NM_000489.4:c.4341_4343del | NP_000480.3:p.Glu1448del | |
| NM_138270.3:c.4227_4229del | NP_612114.2:p.Glu1410del | |
| XM_005262153.3:c.4338_4340del | XP_005262210.2:p.Glu1447del | |
| XM_005262154.3:c.4254_4256del | XP_005262211.2:p.Glu1419del | |
| XM_005262155.3:c.4224_4226del | XP_005262212.2:p.Glu1409del | |
| XM_005262156.3:c.4176_4178del | XP_005262213.2:p.Glu1393del | |
| XM_005262157.3:c.4137_4139del | XP_005262214.2:p.Glu1380del | |
| XM_006724666.2:c.4224_4226del | XP_006724729.1:p.Glu1409del | |
| XM_006724667.2:c.4062_4064del | XP_006724730.1:p.Glu1355del | |
| XM_006724668.2:c.4341_4343del | XP_006724731.1:p.Glu1448del | |
| XR_938400.1:n.4609_4611del | ||
| NM_000489.5:c.4341_4343del | NP_000480.3:p.Glu1448del | |
| XM_005262153.5:c.4338_4340del | XP_005262210.2:p.Glu1447del | |
| XM_005262154.5:c.4254_4256del | XP_005262211.2:p.Glu1419del | |
| XM_005262155.4:c.4224_4226del | XP_005262212.2:p.Glu1409del | |
| XM_005262156.4:c.4176_4178del | XP_005262213.2:p.Glu1393del | |
| XM_005262157.5:c.4137_4139del | XP_005262214.2:p.Glu1380del | |
| XM_006724666.4:c.4224_4226del | XP_006724729.1:p.Glu1409del | |
| XM_006724667.3:c.4062_4064del | XP_006724730.1:p.Glu1355del | |
| XM_006724668.3:c.4341_4343del | XP_006724731.1:p.Glu1448del | |
| XM_017029601.2:c.4251_4253del | XP_016885090.1:p.Glu1418del | |
| XM_017029602.1:c.4221_4223del | XP_016885091.1:p.Glu1408del | |
| XM_017029603.1:c.4173_4175del | XP_016885092.1:p.Glu1392del | |
| XM_017029604.2:c.4140_4142del | XP_016885093.1:p.Glu1381del | |
| XM_017029605.1:c.4137_4139del | XP_016885094.1:p.Glu1380del | |
| XM_017029606.2:c.4110_4112del | XP_016885095.1:p.Glu1371del | |
| XM_017029607.2:c.4107_4109del | XP_016885096.1:p.Glu1370del | |
| XM_017029608.2:c.4059_4061del | XP_016885097.1:p.Glu1354del | |
| XM_017029609.1:c.4023_4025del | XP_016885098.1:p.Glu1342del | |
| XM_017029610.1:c.4020_4022del | XP_016885099.1:p.Glu1341del | |
| XM_017029611.1:c.3975_3977del | XP_016885100.1:p.Glu1326del | |
| XR_001755700.2:n.4566_4568del | ||
| NM_138270.4:c.4227_4229del | NP_612114.2:p.Glu1410del | |
| NM_000489.6:c.4341_4343del MANE Select | NP_000480.3:p.Glu1448del | |
| NM_138270.5:c.4227_4229del | NP_612114.2:p.Glu1410del |