Linked Data
ClinVar Variation Id:
646095
dbSNP Id:
rs1557117436
gnomAD v2:
X-76907802-CTCCTCCTCTTCTTTT-C
gnomAD v4:
X-77652312-CTCCTCCTCTTCTTTT-C
MyVariant Identifiers:
chrX:g.76907803_76907817del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652326_77652340del , CM000685.2:g.77652326_77652340del | GRCh38 |
| NC_000023.10:g.76907816_76907830del , CM000685.1:g.76907816_76907830del | GRCh37 |
| NC_000023.9:g.76794472_76794486del | NCBI36 |
| NG_008838.2:g.138895_138909del | |
| NG_008838.3:g.138943_138957del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4344_4358del MANE Select | ENSP00000362441.4:p.Lys1449_Glu1453del | |
| ENST00000373344.9:c.4344_4358del | ENSP00000362441.4:p.Lys1449_Glu1453del | |
| ENST00000395603.7:c.4230_4244del | ENSP00000378967.3:p.Lys1411_Glu1415del | |
| ENST00000480283.5:c.*3972_*3986del | ENSP00000480196.1:n.*3972_*3986del | |
| NM_000489.4:c.4344_4358del | NP_000480.3:p.Lys1449_Glu1453del | |
| NM_138270.3:c.4230_4244del | NP_612114.2:p.Lys1411_Glu1415del | |
| XM_005262153.3:c.4341_4355del | XP_005262210.2:p.Lys1448_Glu1452del | |
| XM_005262154.3:c.4257_4271del | XP_005262211.2:p.Lys1420_Glu1424del | |
| XM_005262155.3:c.4227_4241del | XP_005262212.2:p.Lys1410_Glu1414del | |
| XM_005262156.3:c.4179_4193del | XP_005262213.2:p.Lys1394_Glu1398del | |
| XM_005262157.3:c.4140_4154del | XP_005262214.2:p.Lys1381_Glu1385del | |
| XM_006724666.2:c.4227_4241del | XP_006724729.1:p.Lys1410_Glu1414del | |
| XM_006724667.2:c.4065_4079del | XP_006724730.1:p.Lys1356_Glu1360del | |
| XM_006724668.2:c.4344_4358del | XP_006724731.1:p.Lys1449_Glu1453del | |
| XR_938400.1:n.4612_4626del | ||
| NM_000489.5:c.4344_4358del | NP_000480.3:p.Lys1449_Glu1453del | |
| XM_005262153.5:c.4341_4355del | XP_005262210.2:p.Lys1448_Glu1452del | |
| XM_005262154.5:c.4257_4271del | XP_005262211.2:p.Lys1420_Glu1424del | |
| XM_005262155.4:c.4227_4241del | XP_005262212.2:p.Lys1410_Glu1414del | |
| XM_005262156.4:c.4179_4193del | XP_005262213.2:p.Lys1394_Glu1398del | |
| XM_005262157.5:c.4140_4154del | XP_005262214.2:p.Lys1381_Glu1385del | |
| XM_006724666.4:c.4227_4241del | XP_006724729.1:p.Lys1410_Glu1414del | |
| XM_006724667.3:c.4065_4079del | XP_006724730.1:p.Lys1356_Glu1360del | |
| XM_006724668.3:c.4344_4358del | XP_006724731.1:p.Lys1449_Glu1453del | |
| XM_017029601.2:c.4254_4268del | XP_016885090.1:p.Lys1419_Glu1423del | |
| XM_017029602.1:c.4224_4238del | XP_016885091.1:p.Lys1409_Glu1413del | |
| XM_017029603.1:c.4176_4190del | XP_016885092.1:p.Lys1393_Glu1397del | |
| XM_017029604.2:c.4143_4157del | XP_016885093.1:p.Lys1382_Glu1386del | |
| XM_017029605.1:c.4140_4154del | XP_016885094.1:p.Lys1381_Glu1385del | |
| XM_017029606.2:c.4113_4127del | XP_016885095.1:p.Lys1372_Glu1376del | |
| XM_017029607.2:c.4110_4124del | XP_016885096.1:p.Lys1371_Glu1375del | |
| XM_017029608.2:c.4062_4076del | XP_016885097.1:p.Lys1355_Glu1359del | |
| XM_017029609.1:c.4026_4040del | XP_016885098.1:p.Lys1343_Glu1347del | |
| XM_017029610.1:c.4023_4037del | XP_016885099.1:p.Lys1342_Glu1346del | |
| XM_017029611.1:c.3978_3992del | XP_016885100.1:p.Lys1327_Glu1331del | |
| XR_001755700.2:n.4569_4583del | ||
| NM_138270.4:c.4230_4244del | NP_612114.2:p.Lys1411_Glu1415del | |
| NM_000489.6:c.4344_4358del MANE Select | NP_000480.3:p.Lys1449_Glu1453del | |
| NM_138270.5:c.4230_4244del | NP_612114.2:p.Lys1411_Glu1415del |