Linked Data
ClinVar Variation Id:
371335
ClinVar RCV Id:
RCV000410794
dbSNP Id:
rs1057517189
gnomAD v4:
1-97573787-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97573789del , CM000663.2:g.97573789del | GRCh38 |
| NC_000001.10:g.98039345del , CM000663.1:g.98039345del | GRCh37 |
| NC_000001.9:g.97811933del | NCBI36 |
| NG_008807.2:g.352272del , LRG_722:g.352272del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.1311del MANE Select | ENSP00000359211.3:p.Phe438LeufsTer5 | |
| ENST00000370192.7:c.1311del | ENSP00000359211.3:p.Phe438LeufsTer5 | |
| NM_000110.3:c.1311del , LRG_722t1:c.1311del | NP_000101.2:p.Phe438LeufsTer5 | |
| XM_005270562.3:c.1311del | XP_005270619.2:p.Phe438LeufsTer5 | |
| XM_006710397.2:c.1311del | XP_006710460.1:p.Phe438LeufsTer5 | |
| XM_006710397.3:c.1311del | XP_006710460.1:p.Phe438LeufsTer5 | |
| XM_017000507.1:c.1200del | XP_016855996.1:p.Phe401LeufsTer5 | |
| XM_017000508.2:c.816del | XP_016855997.1:p.Phe273LeufsTer5 | |
| XM_017000509.2:c.816del | XP_016855998.1:p.Phe273LeufsTer5 | |
| XM_017000510.1:c.816del | XP_016855999.1:p.Phe273LeufsTer5 | |
| NM_000110.4:c.1311del MANE Select | NP_000101.2:p.Phe438LeufsTer5 |