Linked Data
ClinVar Variation Id:
371660
ClinVar RCV Id:
RCV000410238
dbSNP Id:
rs1057517447
gnomAD v4:
8-99431584-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99431587del , CM000670.2:g.99431587del | GRCh38 |
| NC_000008.10:g.100443815del , CM000670.1:g.100443815del | GRCh37 |
| NC_000008.9:g.100512991del | NCBI36 |
| NG_007098.2:g.423322del , LRG_351:g.423322del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355155.6:c.3130del | ENSP00000347281.2:p.Ser1044AlafsTer9 | |
| ENST00000682145.1:n.3010del | ||
| ENST00000682153.1:c.3133del | ENSP00000507923.1:p.Ser1045AlafsTer9 | |
| ENST00000682234.1:c.3133del | ENSP00000508225.1:p.Ser1045AlafsTer9 | |
| ENST00000682358.1:n.3203del | ||
| ENST00000683334.1:c.3133del | ENSP00000507369.1:p.Ser1045AlafsTer9 | |
| ENST00000683486.1:n.3199del | ||
| ENST00000683619.1:n.3305del | ||
| ENST00000357162.7:c.3133del MANE Select | ENSP00000349685.2:p.Ser1045AlafsTer9 | |
| ENST00000358544.7:c.3133del MANE Plus Clinical | ENSP00000351346.2:p.Ser1045AlafsTer9 | |
| ENST00000357162.6:c.3133del | ENSP00000349685.2:p.Ser1045AlafsTer9 | |
| ENST00000358544.6:c.3133del | ENSP00000351346.2:p.Ser1045AlafsTer9 | |
| ENST00000496144.5:c.3133del | ENSP00000430900.1:p.Ser1045AlafsTer9 | |
| ENST00000521037.1:n.398del | ||
| NM_017890.4:c.3133del , LRG_351t1:c.3133del | NP_060360.3:p.Ser1045AlafsTer9 | |
| NM_152564.4:c.3133del , LRG_351t2:c.3133del | NP_689777.3:p.Ser1045AlafsTer9 | |
| XM_005250800.2:c.3133del | XP_005250857.1:p.Ser1045AlafsTer9 | |
| XM_005250801.3:c.3133del | XP_005250858.1:p.Ser1045AlafsTer9 | |
| XM_006716510.2:c.3133del | XP_006716573.1:p.Ser1045AlafsTer9 | |
| XM_011516848.1:c.3130del | XP_011515150.1:p.Ser1044AlafsTer9 | |
| XM_011516849.1:c.3133del | XP_011515151.1:p.Ser1045AlafsTer9 | |
| XM_011516850.1:c.2755del | XP_011515152.1:p.Ser919AlafsTer9 | |
| XM_011516851.1:c.19del | XP_011515153.1:p.Ser7AlafsTer9 | |
| XM_011516852.1:c.19del | XP_011515154.1:p.Ser7AlafsTer9 | |
| XM_011516853.1:c.3133del | XP_011515155.1:p.Ser1045AlafsTer9 | |
| XM_011516855.1:c.3133del | XP_011515157.1:p.Ser1045AlafsTer9 | |
| XM_011516856.1:c.3133del | XP_011515158.1:p.Ser1045AlafsTer9 | |
| XM_011516857.1:c.3133del | XP_011515159.1:p.Ser1045AlafsTer9 | |
| XM_011516858.1:c.3133del | XP_011515160.1:p.Ser1045AlafsTer9 | |
| XM_011516860.1:c.*23del | XP_011515162.1:n.*23del | |
| XR_928301.1:n.3236del | ||
| XR_928302.1:n.3236del | ||
| XR_928303.1:n.3236del | ||
| XR_928304.1:n.3236del | ||
| XM_005250800.3:c.3133del | XP_005250857.1:p.Ser1045AlafsTer9 | |
| XM_005250801.5:c.3133del | XP_005250858.1:p.Ser1045AlafsTer9 | |
| XM_006716510.3:c.3133del | XP_006716573.1:p.Ser1045AlafsTer9 | |
| XM_011516848.2:c.3130del | XP_011515150.1:p.Ser1044AlafsTer9 | |
| XM_011516849.2:c.3133del | XP_011515151.1:p.Ser1045AlafsTer9 | |
| XM_011516850.2:c.2755del | XP_011515152.1:p.Ser919AlafsTer9 | |
| XM_011516851.2:c.19del | XP_011515153.1:p.Ser7AlafsTer9 | |
| XM_011516852.2:c.19del | XP_011515154.1:p.Ser7AlafsTer9 | |
| XM_011516853.2:c.3133del | XP_011515155.1:p.Ser1045AlafsTer9 | |
| XM_017013109.1:c.2938del | XP_016868598.1:p.Ser980AlafsTer9 | |
| XM_017013111.1:c.19del | XP_016868600.1:p.Ser7AlafsTer9 | |
| XM_024447074.1:c.1918del | XP_024302842.1:p.Ser640AlafsTer9 | |
| XR_001745481.1:n.3236del | ||
| XR_001745482.2:n.3236del | ||
| XR_001745484.2:n.3252del | ||
| XR_002956601.1:n.3233del | ||
| XR_002956602.1:n.3252del | ||
| XR_928302.2:n.3236del | ||
| NM_017890.5:c.3133del MANE Plus Clinical | NP_060360.3:p.Ser1045AlafsTer9 | |
| NM_152564.5:c.3133del MANE Select | NP_689777.3:p.Ser1045AlafsTer9 |