Linked Data
ClinVar Variation Id:
222522
ClinVar RCV Id:
RCV000208054
dbSNP Id:
rs763955301
ExAC:
1:116275581 CA / C
gnomAD v2:
1-116275581-CA-C
gnomAD v3:
1-115732960-CA-C
gnomAD v4:
1-115732960-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732964del , CM000663.2:g.115732964del | GRCh38 |
| NC_000001.10:g.116275585del , CM000663.1:g.116275585del | GRCh37 |
| NC_000001.9:g.116077108del | NCBI36 |
| NG_008802.1:g.40845del , LRG_404:g.40845del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.270del | ENSP00000518226.1:p.Phe90LeufsTer28 | |
| ENST00000261448.6:c.546del MANE Select | ENSP00000261448.5:p.Phe182LeufsTer28 | |
| ENST00000261448.5:c.546del | ENSP00000261448.5:p.Phe182LeufsTer28 | |
| NM_001232.3:c.546del , LRG_404t1:c.546del | NP_001223.2:p.Phe182LeufsTer28 | |
| NM_001232.4:c.546del MANE Select | NP_001223.2:p.Phe182LeufsTer28 |