Linked Data
ClinVar Variation Id:
1934322
ClinVar RCV Id:
RCV002631856
dbSNP Id:
rs1558190683
gnomAD v4:
1-244864024-CCTTCCTCCTCCTCTTCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864041_244864058del , CM000663.2:g.244864041_244864058del | GRCh38 |
| NC_000001.10:g.245027343_245027360del , CM000663.1:g.245027343_245027360del | GRCh37 |
| NC_000001.9:g.243093966_243093983del | NCBI36 |
| NG_042184.1:g.5484_5501del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.266_283del | ENSP00000283179.10:p.Glu89_Glu94del | |
| ENST00000444376.7:c.266_283del | ENSP00000393151.2:p.Glu89_Glu94del | |
| ENST00000476241.2:n.451_468del | ||
| ENST00000638475.1:c.50_67del | ENSP00000491305.1:p.Glu17_Glu22del | |
| ENST00000638952.1:n.497_514del | ||
| ENST00000640218.2:c.266_283del MANE Select | ENSP00000491215.1:p.Glu89_Glu94del | |
| ENST00000640306.1:c.266_283del | ENSP00000491685.1:p.Glu89_Glu94del | |
| ENST00000649899.1:n.490_507del | ||
| ENST00000283179.13:c.266_283del | ENSP00000283179.9:p.Glu89_Glu94del | |
| ENST00000444376.6:c.266_283del | ENSP00000393151.2:p.Glu89_Glu94del | |
| ENST00000476241.1:n.450_467del | ||
| NM_004501.3:c.266_283del | NP_004492.2:p.Glu89_Glu94del | |
| NM_031844.2:c.266_283del | NP_114032.2:p.Glu89_Glu94del | |
| NM_031844.3:c.266_283del MANE Select | NP_114032.2:p.Glu89_Glu94del |