Linked Data
ClinVar Variation Id:
370712
ClinVar RCV Id:
RCV000410448
dbSNP Id:
rs1057516710
gnomAD v4:
1-97382396-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97382397del , CM000663.2:g.97382397del | GRCh38 |
| NC_000001.10:g.97847953del , CM000663.1:g.97847953del | GRCh37 |
| NC_000001.9:g.97620541del | NCBI36 |
| NG_008807.2:g.543663del , LRG_722:g.543663del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.1970del MANE Select | ENSP00000359211.3:p.Ser657LeufsTer11 | |
| ENST00000370192.7:c.1970del | ENSP00000359211.3:p.Ser657LeufsTer11 | |
| NM_000110.3:c.1970del , LRG_722t1:c.1970del | NP_000101.2:p.Ser657LeufsTer11 | |
| XM_005270562.3:c.1754del | XP_005270619.2:p.Ser585LeufsTer11 | |
| XM_006710397.2:c.1970del | XP_006710460.1:p.Ser657LeufsTer11 | |
| XR_947619.1:n.1347-1237del | ||
| XR_947620.1:n.1125-1237del | ||
| XR_947621.1:n.1347-1237del | ||
| XM_006710397.3:c.1970del | XP_006710460.1:p.Ser657LeufsTer11 | |
| XM_017000507.1:c.1859del | XP_016855996.1:p.Ser620LeufsTer11 | |
| XM_017000508.2:c.1475del | XP_016855997.1:p.Ser492LeufsTer11 | |
| XM_017000509.2:c.1475del | XP_016855998.1:p.Ser492LeufsTer11 | |
| XM_017000510.1:c.1475del | XP_016855999.1:p.Ser492LeufsTer11 | |
| XR_001737686.2:n.692-1237del | ||
| XR_001737687.1:n.692-1237del | ||
| XR_001737688.2:n.692-1237del | ||
| NM_000110.4:c.1970del MANE Select | NP_000101.2:p.Ser657LeufsTer11 |