Linked Data
ClinVar Variation Id:
372486
ClinVar RCV Id:
RCV002348128
dbSNP Id:
rs1057517812
gnomAD v4:
17-58696845-AAC-A
COSMIC:
COSM6028178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58696849_58696850del , CM000679.2:g.58696849_58696850del | GRCh38 |
| NC_000017.10:g.56774210_56774211del , CM000679.1:g.56774210_56774211del | GRCh37 |
| NC_000017.9:g.54129209_54129210del | NCBI36 |
| NG_023199.1:g.9248_9249del , LRG_314:g.9248_9249del | |
| NG_047169.1:g.233_234del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461271.6:c.210_211del | ENSP00000464056.2:p.His70GlnfsTer15 | |
| ENST00000697675.1:n.3158_3159del | ||
| ENST00000697676.1:n.621_622del | ||
| ENST00000697677.1:n.1642_1643del | ||
| ENST00000697678.1:n.463_464del | ||
| ENST00000697679.1:n.1635_1636del | ||
| ENST00000697680.1:c.*1425_*1426del | ENSP00000513392.1:n.*1425_*1426del | |
| ENST00000697681.1:c.*1452_*1453del | ENSP00000513393.1:n.*1452_*1453del | |
| ENST00000697683.1:c.*1425_*1426del | ENSP00000513395.1:n.*1425_*1426del | |
| ENST00000697684.1:n.621_622del | ||
| ENST00000697685.1:c.*1268+1660_*1268+1661del | ENSP00000513396.1:n.*1268+1660_*1268+1661... | |
| ENST00000697686.1:c.210_211del | ENSP00000513397.1:p.His70GlnfsTer15 | |
| ENST00000697687.1:n.450+1660_450+1661del | ||
| ENST00000697688.1:n.607_608del | ||
| ENST00000697689.1:c.*1107+1660_*1107+1661del | ENSP00000513398.1:n.*1107+1660_*1107+1661... | |
| ENST00000697690.1:c.561_562del | ENSP00000513399.1:p.His187GlnfsTer15 | |
| ENST00000697691.1:c.*533_*534del | ENSP00000513400.1:n.*533_*534del | |
| ENST00000697692.1:c.*573_*574del | ENSP00000513401.1:n.*573_*574del | |
| ENST00000697694.1:c.210_211del | ENSP00000513402.1:p.His70GlnfsTer15 | |
| ENST00000697695.1:n.1168_1169del | ||
| ENST00000337432.9:c.561_562del MANE Select | ENSP00000336701.4:p.His187GlnfsTer15 | |
| ENST00000337432.8:c.561_562del | ENSP00000336701.4:p.His187GlnfsTer15 | |
| ENST00000413590.5:c.199_200del | ||
| ENST00000425173.5:c.357_358del | ENSP00000407282.1:p.His119GlnfsTer15 | |
| ENST00000461271.5:c.210_211del | ENSP00000464056.1:p.His70GlnfsTer15 | |
| ENST00000475762.5:c.*1264_*1265del | ENSP00000432421.1:n.*1264_*1265del | |
| ENST00000482007.5:c.404+1660_404+1661del | ENSP00000433332.1:n.404+1660_404+1661del | |
| ENST00000487525.5:c.404+1660_404+1661del | ENSP00000431637.1:n.404+1660_404+1661del | |
| ENST00000487921.5:n.473_474del | ||
| ENST00000583539.5:c.561_562del | ENSP00000463121.1:p.His187GlnfsTer15 | |
| ENST00000584617.5:c.283_284del | ||
| ENST00000622327.4:c.297_298del | ENSP00000482326.1:p.His99GlnfsTer? | |
| NM_058216.2:c.561_562del | NP_478123.1:p.His187GlnfsTer15 | |
| NR_103872.1:n.475+1660_475+1661del | ||
| XM_006722001.2:c.561_562del | XP_006722064.1:p.His187GlnfsTer15 | |
| XM_006722002.2:c.561_562del | XP_006722065.1:p.His187GlnfsTer15 | |
| XM_006722004.2:c.210_211del | XP_006722067.1:p.His70GlnfsTer15 | |
| XM_006722005.2:c.210_211del | XP_006722068.1:p.His70GlnfsTer15 | |
| XM_011525092.1:c.210_211del | XP_011523394.1:p.His70GlnfsTer15 | |
| XM_011525093.1:c.210_211del | XP_011523395.1:p.His70GlnfsTer15 | |
| XM_011525094.1:c.210_211del | XP_011523396.1:p.His70GlnfsTer15 | |
| XR_934513.1:n.634_635del | ||
| XR_934514.1:n.634_635del | ||
| XM_006722001.4:c.561_562del | XP_006722064.1:p.His187GlnfsTer15 | |
| XM_006722002.4:c.561_562del | XP_006722065.1:p.His187GlnfsTer15 | |
| XM_006722004.3:c.210_211del | XP_006722067.1:p.His70GlnfsTer15 | |
| XM_006722005.3:c.210_211del | XP_006722068.1:p.His70GlnfsTer15 | |
| XM_011525092.2:c.210_211del | XP_011523394.1:p.His70GlnfsTer15 | |
| XM_011525093.2:c.210_211del | XP_011523395.1:p.His70GlnfsTer15 | |
| XM_011525094.2:c.210_211del | XP_011523396.1:p.His70GlnfsTer15 | |
| XM_017024914.1:c.210_211del | XP_016880403.1:p.His70GlnfsTer15 | |
| XM_017024915.1:c.210_211del | XP_016880404.1:p.His70GlnfsTer15 | |
| XM_017024916.1:c.210_211del | XP_016880405.1:p.His70GlnfsTer15 | |
| XM_017024917.1:c.210_211del | XP_016880406.1:p.His70GlnfsTer15 | |
| XM_017024918.2:c.210_211del | XP_016880407.1:p.His70GlnfsTer15 | |
| XM_017024919.1:c.210_211del | XP_016880408.1:p.His70GlnfsTer15 | |
| XR_934513.3:n.1065_1066del | ||
| XR_934514.3:n.1065_1066del | ||
| NM_058216.3:c.561_562del MANE Select | NP_478123.1:p.His187GlnfsTer15 | |
| NR_103872.2:n.446+1660_446+1661del |