Linked Data
ClinVar Variation Id:
1685130
ClinVar RCV Id:
RCV002248857
dbSNP Id:
rs2133800193
gnomAD v4:
11-20628067-CACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20628073_20628075del , CM000673.2:g.20628073_20628075del | GRCh38 |
| NC_000011.9:g.20649619_20649621del , CM000673.1:g.20649619_20649621del | GRCh37 |
| NC_000011.8:g.20606195_20606197del | NCBI36 |
| NG_013086.1:g.33674_33676del | |
| NG_013086.2:g.33674_33676del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1489_1491del MANE Select | ENSP00000434364.2:p.Asn497del | |
| ENST00000298923.11:c.*786_*788del | ENSP00000298923.7:n.*786_*788del | |
| ENST00000525748.5:c.1489_1491del | ENSP00000434364.1:p.Asn497del | |
| NM_004211.3:c.1489_1491del | NP_004202.2:p.Asn497del | |
| XM_005253225.1:c.787_789del | XP_005253282.1:p.Asn263del | |
| XM_011520473.1:c.1489_1491del | XP_011518775.1:p.Asn497del | |
| NM_001318369.1:c.787_789del | NP_001305298.1:p.Asn263del | |
| NM_004211.4:c.1489_1491del | NP_004202.3:p.Asn497del | |
| XM_017018544.2:c.613_615del | XP_016874033.1:p.Asn205del | |
| XM_017018545.2:c.448_450del | XP_016874034.1:p.Asn150del | |
| NM_001318369.2:c.787_789del | NP_001305298.1:p.Asn263del | |
| NM_004211.5:c.1489_1491del MANE Select | NP_004202.4:p.Asn497del |