Linked Data
ClinVar Variation Id:
1126528
ClinVar RCV Id:
RCV001458596
dbSNP Id:
rs781854613
gnomAD v2:
X-76907766-ATCTTCCTCCTCC-A
gnomAD v3:
X-77652276-ATCTTCCTCCTCC-A
gnomAD v4:
X-77652276-ATCTTCCTCCTCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652291_77652302del , CM000685.2:g.77652291_77652302del | GRCh38 |
| NC_000023.10:g.76907781_76907792del , CM000685.1:g.76907781_76907792del | GRCh37 |
| NC_000023.9:g.76794437_76794448del | NCBI36 |
| NG_008838.2:g.138934_138945del | |
| NG_008838.3:g.138982_138993del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4383_4394del MANE Select | ENSP00000362441.4:p.Glu1461_Glu1464del | |
| ENST00000373344.9:c.4383_4394del | ENSP00000362441.4:p.Glu1461_Glu1464del | |
| ENST00000395603.7:c.4269_4280del | ENSP00000378967.3:p.Glu1423_Glu1426del | |
| ENST00000480283.5:c.*4011_*4022del | ENSP00000480196.1:n.*4011_*4022del | |
| NM_000489.4:c.4383_4394del | NP_000480.3:p.Glu1461_Glu1464del | |
| NM_138270.3:c.4269_4280del | NP_612114.2:p.Glu1423_Glu1426del | |
| XM_005262153.3:c.4380_4391del | XP_005262210.2:p.Glu1460_Glu1463del | |
| XM_005262154.3:c.4296_4307del | XP_005262211.2:p.Glu1432_Glu1435del | |
| XM_005262155.3:c.4266_4277del | XP_005262212.2:p.Glu1422_Glu1425del | |
| XM_005262156.3:c.4218_4229del | XP_005262213.2:p.Glu1406_Glu1409del | |
| XM_005262157.3:c.4179_4190del | XP_005262214.2:p.Glu1393_Glu1396del | |
| XM_006724666.2:c.4266_4277del | XP_006724729.1:p.Glu1422_Glu1425del | |
| XM_006724667.2:c.4104_4115del | XP_006724730.1:p.Glu1368_Glu1371del | |
| XM_006724668.2:c.4383_4394del | XP_006724731.1:p.Glu1461_Glu1464del | |
| XR_938400.1:n.4651_4662del | ||
| NM_000489.5:c.4383_4394del | NP_000480.3:p.Glu1461_Glu1464del | |
| XM_005262153.5:c.4380_4391del | XP_005262210.2:p.Glu1460_Glu1463del | |
| XM_005262154.5:c.4296_4307del | XP_005262211.2:p.Glu1432_Glu1435del | |
| XM_005262155.4:c.4266_4277del | XP_005262212.2:p.Glu1422_Glu1425del | |
| XM_005262156.4:c.4218_4229del | XP_005262213.2:p.Glu1406_Glu1409del | |
| XM_005262157.5:c.4179_4190del | XP_005262214.2:p.Glu1393_Glu1396del | |
| XM_006724666.4:c.4266_4277del | XP_006724729.1:p.Glu1422_Glu1425del | |
| XM_006724667.3:c.4104_4115del | XP_006724730.1:p.Glu1368_Glu1371del | |
| XM_006724668.3:c.4383_4394del | XP_006724731.1:p.Glu1461_Glu1464del | |
| XM_017029601.2:c.4293_4304del | XP_016885090.1:p.Glu1431_Glu1434del | |
| XM_017029602.1:c.4263_4274del | XP_016885091.1:p.Glu1421_Glu1424del | |
| XM_017029603.1:c.4215_4226del | XP_016885092.1:p.Glu1405_Glu1408del | |
| XM_017029604.2:c.4182_4193del | XP_016885093.1:p.Glu1394_Glu1397del | |
| XM_017029605.1:c.4179_4190del | XP_016885094.1:p.Glu1393_Glu1396del | |
| XM_017029606.2:c.4152_4163del | XP_016885095.1:p.Glu1384_Glu1387del | |
| XM_017029607.2:c.4149_4160del | XP_016885096.1:p.Glu1383_Glu1386del | |
| XM_017029608.2:c.4101_4112del | XP_016885097.1:p.Glu1367_Glu1370del | |
| XM_017029609.1:c.4065_4076del | XP_016885098.1:p.Glu1355_Glu1358del | |
| XM_017029610.1:c.4062_4073del | XP_016885099.1:p.Glu1354_Glu1357del | |
| XM_017029611.1:c.4017_4028del | XP_016885100.1:p.Glu1339_Glu1342del | |
| XR_001755700.2:n.4608_4619del | ||
| NM_138270.4:c.4269_4280del | NP_612114.2:p.Glu1423_Glu1426del | |
| NM_000489.6:c.4383_4394del MANE Select | NP_000480.3:p.Glu1461_Glu1464del | |
| NM_138270.5:c.4269_4280del | NP_612114.2:p.Glu1423_Glu1426del |