Linked Data
ClinVar Variation Id:
6721
ClinVar RCV Id:
RCV000007113
dbSNP Id:
rs779637348
gnomAD v2:
6-139694545-AGAGCCGCCGGGGGTGCTGCTGCCGCCC-A
gnomAD v3:
6-139373408-AGAGCCGCCGGGGGTGCTGCTGCCGCCC-A
gnomAD v4:
6-139373408-AGAGCCGCCGGGGGTGCTGCTGCCGCCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373435_139373461del , CM000668.2:g.139373435_139373461del | GRCh38 |
| NC_000006.11:g.139694572_139694598del , CM000668.1:g.139694572_139694598del | GRCh37 |
| NC_000006.10:g.139736265_139736291del | NCBI36 |
| NG_016169.1:g.6214_6240del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.510_536del MANE Select | ENSP00000356623.2:p.Gly171_Ser179del | |
| ENST00000367651.3:c.510_536del | ENSP00000356623.2:p.Gly171_Ser179del | |
| ENST00000536159.2:c.510_536del | ENSP00000442831.1:p.Gly171_Ser179del | |
| ENST00000537332.2:c.525_551del | ENSP00000444198.2:p.Gly176_Ser184del | |
| ENST00000618718.1:c.476+34_476+60del | ENSP00000479918.1:n.476+34_476+60del | |
| NM_001168388.2:c.510_536del | NP_001161860.1:p.Gly171_Ser179del | |
| NM_001168389.2:c.525_551del | NP_001161861.2:p.Gly176_Ser184del | |
| NM_006079.4:c.510_536del | NP_006070.2:p.Gly171_Ser179del | |
| NM_006079.5:c.510_536del MANE Select | NP_006070.2:p.Gly171_Ser179del | |
| NM_001168388.3:c.510_536del | NP_001161860.1:p.Gly171_Ser179del | |
| NM_001168389.3:c.525_551del | NP_001161861.2:p.Gly176_Ser184del |