ClinGen Classification:
Classification
Uncertain Significance
ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792418_34792420del , CM000683.2:g.34792418_34792420del | GRCh38 |
| NC_000021.8:g.36164715_36164717del , CM000683.1:g.36164715_36164717del | GRCh37 |
| NC_000021.7:g.35086585_35086587del | NCBI36 |
| NG_011402.2:g.1197293_1197295del , LRG_482:g.1197293_1197295del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1159_1161del MANE Select | ENSP00000501943.1:p.Gly387del | |
| ENST00000300305.7:c.1159_1161del | ENSP00000300305.3:p.Gly387del | |
| ENST00000344691.8:c.1078_1080del | ENSP00000340690.4:p.Gly360del | |
| ENST00000399240.5:c.886_888del | ENSP00000382184.1:p.Gly296del | |
| ENST00000437180.5:c.1159_1161del | ENSP00000409227.1:p.Gly387del | |
| ENST00000482318.5:c.*749_*751del | ENSP00000477067.1:n.*749_*751del | |
| NM_001001890.2:c.1078_1080del | NP_001001890.1:p.Gly360del | |
| NM_001754.4:c.1159_1161del , LRG_482t1:c.1159_1161del | NP_001745.2:p.Gly387del | |
| XM_005261068.3:c.1123_1125del | XP_005261125.1:p.Gly375del | |
| XM_005261069.3:c.967_969del | XP_005261126.1:p.Gly323del | |
| XM_011529766.1:c.1159_1161del | XP_011528068.1:p.Gly387del | |
| XM_011529767.1:c.1120_1122del | XP_011528069.1:p.Gly374del | |
| XM_011529768.1:c.928_930del | XP_011528070.1:p.Gly310del | |
| XM_005261069.4:c.967_969del | XP_005261126.1:p.Gly323del | |
| XM_011529766.2:c.1159_1161del | XP_011528068.1:p.Gly387del | |
| XM_011529767.2:c.1120_1122del | XP_011528069.1:p.Gly374del | |
| XM_011529768.2:c.928_930del | XP_011528070.1:p.Gly310del | |
| XM_017028487.1:c.1006_1008del | XP_016883976.1:p.Gly336del | |
| NM_001001890.3:c.1078_1080del | NP_001001890.1:p.Gly360del | |
| NM_001754.5:c.1159_1161del MANE Select | NP_001745.2:p.Gly387del |