Linked Data
ClinVar Variation Id:
643165
ClinVar RCV Id:
RCV000796803
dbSNP Id:
rs1597592053
gnomAD v4:
17-17219156-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17219163_17219165del , CM000679.2:g.17219163_17219165del | GRCh38 |
| NC_000017.10:g.17122477_17122479del , CM000679.1:g.17122477_17122479del | GRCh37 |
| NC_000017.9:g.17063202_17063204del | NCBI36 |
| NG_008001.2:g.23030_23032del , LRG_325:g.23030_23032del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.922_924del MANE Select | ENSP00000285071.4:p.Glu308del | |
| ENST00000285071.8:c.922_924del | ENSP00000285071.4:p.Glu308del | |
| ENST00000427497.3:c.149-105_149-103del | ENSP00000394249.3:n.149-105_149-103del | |
| NM_144997.5:c.922_924del , LRG_325t1:c.922_924del | NP_659434.2:p.Glu308del | |
| XM_011523714.1:c.976_978del | XP_011522016.1:p.Glu326del | |
| XM_011523715.1:c.976_978del | XP_011522017.1:p.Glu326del | |
| XM_011523716.1:c.976_978del | XP_011522018.1:p.Glu326del | |
| XM_011523717.1:c.976_978del | XP_011522019.1:p.Glu326del | |
| XM_011523718.1:c.976_978del | XP_011522020.1:p.Glu326del | |
| XM_011523719.1:c.976_978del | XP_011522021.1:p.Glu326del | |
| XM_011523720.1:c.700_702del | XP_011522022.1:p.Glu234del | |
| XM_011523721.1:c.976_978del | XP_011522023.1:p.Glu326del | |
| XR_934007.1:n.2316_2318del | ||
| NM_001353229.1:c.976_978del | NP_001340158.1:p.Glu326del | |
| NM_001353230.1:c.922_924del | NP_001340159.1:p.Glu308del | |
| NM_001353231.1:c.922_924del | NP_001340160.1:p.Glu308del | |
| NM_144997.6:c.922_924del | NP_659434.2:p.Glu308del | |
| XM_011523714.3:c.976_978del | XP_011522016.1:p.Glu326del | |
| XM_011523718.3:c.976_978del | XP_011522020.1:p.Glu326del | |
| XM_011523719.3:c.976_978del | XP_011522021.1:p.Glu326del | |
| XM_011523721.3:c.976_978del | XP_011522023.1:p.Glu326del | |
| XM_017024305.2:c.976_978del | XP_016879794.1:p.Glu326del | |
| XM_017024308.1:c.922_924del | XP_016879797.1:p.Glu308del | |
| XM_017024309.2:c.700_702del | XP_016879798.1:p.Glu234del | |
| XM_024450635.1:c.976_978del | XP_024306403.1:p.Glu326del | |
| XR_001752445.2:n.1480_1482del | ||
| NM_144997.7:c.922_924del MANE Select | NP_659434.2:p.Glu308del | |
| NM_001353229.2:c.976_978del | NP_001340158.1:p.Glu326del | |
| NM_001353230.2:c.922_924del | NP_001340159.1:p.Glu308del | |
| NM_001353231.2:c.922_924del | NP_001340160.1:p.Glu308del |