Linked Data
ClinVar Variation Id:
1431998
ClinVar RCV Id:
RCV001941044
dbSNP Id:
rs1219230462
gnomAD v2:
16-16244031-CCTTCTGGGCCAG-C
gnomAD v3:
16-16150174-CCTTCTGGGCCAG-C
gnomAD v4:
16-16150174-CCTTCTGGGCCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150176_16150187del , CM000678.2:g.16150176_16150187del | GRCh38 |
| NC_000016.9:g.16244033_16244044del , CM000678.1:g.16244033_16244044del | GRCh37 |
| NC_000016.8:g.16151534_16151545del | NCBI36 |
| NG_007558.2:g.78286_78297del | |
| NG_007558.3:g.78432_78443del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*631_*642del | ENSP00000483331.2:n.*631_*642del | |
| ENST00000205557.12:c.4459_4470del MANE Select | ENSP00000205557.7:p.Leu1487_Lys1490del | |
| ENST00000640696.1:c.1273_1284del | ENSP00000492197.1:p.Leu425_Lys428del | |
| ENST00000205557.11:c.4459_4470del | ENSP00000205557.7:p.Leu1487_Lys1490del | |
| ENST00000456970.6:c.4084_4095del | ENSP00000405002.2:n.4084_4095del | |
| ENST00000576204.5:n.1322_1333del | ||
| ENST00000622290.4:c.*1668_*1679del | ENSP00000483331.1:n.*1668_*1679del | |
| NM_001171.5:c.4459_4470del | NP_001162.4:p.Leu1487_Lys1490del | |
| XM_011522479.1:c.4426_4437del | XP_011520781.1:p.Leu1476_Lys1479del | |
| XM_011522480.1:c.4117_4128del | XP_011520782.1:p.Leu1373_Lys1376del | |
| XM_011522481.1:c.4117_4128del | XP_011520783.1:p.Leu1373_Lys1376del | |
| XR_933134.1:n.538+5886_538+5897del | ||
| NM_001351800.1:c.4117_4128del | NP_001338729.1:p.Leu1373_Lys1376del | |
| NR_147784.1:n.4121_4132del | ||
| XM_011522479.2:c.4426_4437del | XP_011520781.1:p.Leu1476_Lys1479del | |
| XM_011522481.3:c.4117_4128del | XP_011520783.1:p.Leu1373_Lys1376del | |
| XM_017023212.1:c.4291_4302del | XP_016878701.1:p.Leu1431_Lys1434del | |
| XM_024450261.1:c.4495_4506del | XP_024306029.1:p.Leu1499_Lys1502del | |
| NM_001171.6:c.4459_4470del MANE Select | NP_001162.5:p.Leu1487_Lys1490del |