Linked Data
ClinVar Variation Id:
1613411
ClinVar RCV Id:
RCV002171252
dbSNP Id:
rs2134255033
gnomAD v4:
11-67490230-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490232_67490233del , CM000673.2:g.67490232_67490233del | GRCh38 |
| NC_000011.9:g.67257703_67257704del , CM000673.1:g.67257703_67257704del | GRCh37 |
| NC_000011.8:g.67014279_67014280del | NCBI36 |
| NG_008969.1:g.12199_12200del , LRG_460:g.12199_12200del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.622+18_622+19del | ||
| ENST00000528641.7:c.456+18_456+19del | ENSP00000434982.3:n.456+18_456+19del | |
| ENST00000529797.2:n.1157+18_1157+19del | ||
| ENST00000682324.1:c.469-765_469-764del | ENSP00000508017.1:n.469-765_469-764del | |
| ENST00000682659.1:c.276+18_276+19del | ENSP00000507351.1:n.276+18_276+19del | |
| ENST00000682699.1:c.645+18_645+19del | ENSP00000507935.1:n.645+18_645+19del | |
| ENST00000683237.1:c.645+18_645+19del | ENSP00000507343.1:n.645+18_645+19del | |
| ENST00000683856.1:c.468+18_468+19del | ENSP00000507979.1:n.468+18_468+19del | |
| ENST00000684006.1:c.645+18_645+19del | ENSP00000507269.1:n.645+18_645+19del | |
| ENST00000684657.1:c.465+18_465+19del | ENSP00000507961.1:n.465+18_465+19del | |
| ENST00000279146.8:c.645+18_645+19del MANE Select | ENSP00000279146.3:n.645+18_645+19del | |
| ENST00000279146.7:c.645+18_645+19del | ENSP00000279146.3:n.645+18_645+19del | |
| ENST00000525341.1:c.297+18_297+19del | ENSP00000476993.1:n.297+18_297+19del | |
| ENST00000528641.6:c.456+18_456+19del | ENSP00000434982.2:n.456+18_456+19del | |
| NM_001302959.1:c.468+18_468+19del | NP_001289888.1:n.468+18_468+19del | |
| NM_001302960.1:c.645+18_645+19del | NP_001289889.1:n.645+18_645+19del | |
| NM_003977.3:c.645+18_645+19del | NP_003968.3:n.645+18_645+19del | |
| XM_024448761.1:c.645+18_645+19del | XP_024304529.1:n.645+18_645+19del | |
| NM_003977.4:c.645+18_645+19del MANE Select | NP_003968.3:n.645+18_645+19del | |
| NM_001302960.2:c.645+18_645+19del | NP_001289889.1:n.645+18_645+19del | |
| NM_001302959.2:c.468+18_468+19del | NP_001289888.1:n.468+18_468+19del |