Linked Data
ClinVar Variation Id:
361584
ClinVar RCV Id:
RCV000260929
dbSNP Id:
rs886062619
gnomAD v2:
8-116424407-TA-T
gnomAD v3:
8-115412179-TA-T
gnomAD v4:
8-115412179-TA-T
MyVariant Identifiers:
chr8:g.116424409del (hg19)
chr8:g.116424408del (hg19)
chr8:g.115412181del (hg38)
chr8:g.115412180del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115412191del , CM000670.2:g.115412191del | GRCh38 |
| NC_000008.10:g.116424419del , CM000670.1:g.116424419del | GRCh37 |
| NC_000008.9:g.116493595del | NCBI36 |
| NG_012383.3:g.261822del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395715.8:c.*1843del MANE Select | ENSP00000379065.3:n.*1843del | |
| ENST00000640765.1:c.*1843del | ENSP00000492037.1:n.*1843del | |
| ENST00000395715.7:c.*1843del | ENSP00000379065.3:n.*1843del | |
| NM_001282902.2:c.*1843del | NP_001269831.1:n.*1843del | |
| NM_001282903.2:c.*1843del | NP_001269832.1:n.*1843del | |
| NM_014112.4:c.*1843del | NP_054831.2:n.*1843del | |
| XM_005251049.2:c.*1843del | XP_005251106.1:n.*1843del | |
| XM_006716625.1:c.*1843del | XP_006716688.1:n.*1843del | |
| XM_011517264.1:c.*1843del | XP_011515566.1:n.*1843del | |
| XM_011517265.1:c.*1843del | XP_011515567.1:n.*1843del | |
| XM_011517266.1:c.*1843del | XP_011515568.1:n.*1843del | |
| XM_011517267.1:c.*1843del | XP_011515569.1:n.*1843del | |
| XM_011517268.1:c.*1843del | XP_011515570.1:n.*1843del | |
| NM_001330599.1:c.*1843del | NP_001317528.1:n.*1843del | |
| XM_011517264.2:c.*1843del | XP_011515566.1:n.*1843del | |
| XM_011517266.3:c.*1843del | XP_011515568.1:n.*1843del | |
| XM_011517268.2:c.*1843del | XP_011515570.1:n.*1843del | |
| NM_001282902.3:c.*1843del | NP_001269831.1:n.*1843del | |
| NM_001282903.3:c.*1843del | NP_001269832.1:n.*1843del | |
| NM_001330599.2:c.*1843del | NP_001317528.1:n.*1843del | |
| NM_014112.5:c.*1843del MANE Select | NP_054831.2:n.*1843del |