Linked Data
ClinVar Variation Id:
532672
dbSNP Id:
rs748122795
gnomAD v2:
21-36171614-AAGTTCTGCAGAG-A
gnomAD v3:
21-34799317-AAGTTCTGCAGAG-A
gnomAD v4:
21-34799317-AAGTTCTGCAGAG-A
ERepo:
CA10014262/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34799320_34799331del , CM000683.2:g.34799320_34799331del | GRCh38 |
| NC_000021.8:g.36171617_36171628del , CM000683.1:g.36171617_36171628del | GRCh37 |
| NC_000021.7:g.35093487_35093498del | NCBI36 |
| NG_011402.2:g.1190383_1190394del , LRG_482:g.1190383_1190394del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.939_950del MANE Select | ENSP00000501943.1:p.Ser314_Leu317del | |
| ENST00000300305.7:c.939_950del | ENSP00000300305.3:p.Ser314_Leu317del | |
| ENST00000344691.8:c.858_869del | ENSP00000340690.4:p.Ser287_Leu290del | |
| ENST00000399240.5:c.666_677del | ENSP00000382184.1:p.Ser223_Leu226del | |
| ENST00000437180.5:c.939_950del | ENSP00000409227.1:p.Ser314_Leu317del | |
| ENST00000482318.5:c.*529_*540del | ENSP00000477067.1:n.*529_*540del | |
| NM_001001890.2:c.858_869del | NP_001001890.1:p.Ser287_Leu290del | |
| NM_001754.4:c.939_950del , LRG_482t1:c.939_950del | NP_001745.2:p.Ser314_Leu317del | |
| XM_005261068.3:c.903_914del | XP_005261125.1:p.Ser302_Leu305del | |
| XM_005261069.3:c.747_758del | XP_005261126.1:p.Ser250_Leu253del | |
| XM_011529766.1:c.939_950del | XP_011528068.1:p.Ser314_Leu317del | |
| XM_011529767.1:c.900_911del | XP_011528069.1:p.Ser301_Leu304del | |
| XM_011529768.1:c.708_719del | XP_011528070.1:p.Ser237_Leu240del | |
| XR_937576.1:n.1118_1129del | ||
| XM_005261069.4:c.747_758del | XP_005261126.1:p.Ser250_Leu253del | |
| XM_011529766.2:c.939_950del | XP_011528068.1:p.Ser314_Leu317del | |
| XM_011529767.2:c.900_911del | XP_011528069.1:p.Ser301_Leu304del | |
| XM_011529768.2:c.708_719del | XP_011528070.1:p.Ser237_Leu240del | |
| XM_017028487.1:c.786_797del | XP_016883976.1:p.Ser263_Leu266del | |
| XR_937576.2:n.1165_1176del | ||
| NM_001001890.3:c.858_869del | NP_001001890.1:p.Ser287_Leu290del | |
| NM_001754.5:c.939_950del MANE Select | NP_001745.2:p.Ser314_Leu317del |