Linked Data
ClinVar Variation Id:
5455
ClinVar RCV Id:
RCV000005788
dbSNP Id:
rs367543035
gnomAD v3:
15-90749824-TCAA-T
gnomAD v4:
15-90749824-TCAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90749825_90749827del , CM000677.2:g.90749825_90749827del | GRCh38 |
| NC_000015.9:g.91293055_91293057del , CM000677.1:g.91293055_91293057del | GRCh37 |
| NC_000015.8:g.89094059_89094061del | NCBI36 |
| NG_007272.1:g.37454_37456del , LRG_20:g.37454_37456del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355112.8:c.557_559del MANE Select | ENSP00000347232.3:p.Ser186Ter | |
| ENST00000648453.1:c.557_559del | ENSP00000497646.1:p.Ser186Ter | |
| ENST00000680772.1:c.557_559del | ENSP00000506117.1:p.Ser186Ter | |
| ENST00000681142.1:c.557_559del | ENSP00000506682.1:p.Ser186Ter | |
| ENST00000355112.7:c.557_559del | ENSP00000347232.3:p.Ser186Ter | |
| ENST00000559282.1:n.731_733del | ||
| ENST00000559724.5:c.557_559del | ENSP00000453359.1:p.Ser186Ter | |
| ENST00000560509.5:c.557_559del | ENSP00000454158.1:p.Ser186Ter | |
| NM_000057.3:c.557_559del | NP_000048.1:p.Ser186Ter | |
| NM_001287246.1:c.557_559del | NP_001274175.1:p.Ser186Ter | |
| NM_001287247.1:c.557_559del | NP_001274176.1:p.Ser186Ter | |
| NM_001287248.1:c.-735_-733del | NP_001274177.1:n.-735_-733del | |
| XM_011521882.1:c.557_559del | XP_011520184.1:p.Ser186Ter | |
| XM_011521882.3:c.557_559del | XP_011520184.1:p.Ser186Ter | |
| NM_000057.4:c.557_559del MANE Select | NP_000048.1:p.Ser186Ter | |
| NM_001287246.2:c.557_559del | NP_001274175.1:p.Ser186Ter | |
| NM_001287247.2:c.557_559del | NP_001274176.1:p.Ser186Ter | |
| NM_001287248.2:c.-735_-733del | NP_001274177.1:n.-735_-733del |