Linked Data
ClinVar Variation Id:
1895561
ClinVar RCV Id:
RCV002569486
dbSNP Id:
rs780059425
ExAC:
9:123725260 AG / A
gnomAD v2:
9-123725260-AG-A
gnomAD v3:
9-120962982-AG-A
gnomAD v4:
9-120962982-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962983del , CM000671.2:g.120962983del | GRCh38 |
| NC_000009.11:g.123725261del , CM000671.1:g.123725261del | GRCh37 |
| NC_000009.10:g.122765082del | NCBI36 |
| NG_007364.1:g.92294del , LRG_28:g.92294del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1358-16del | ||
| ENST00000696279.1:c.4644-16del | ||
| ENST00000696280.1:n.4413-16del | ||
| ENST00000696281.1:c.4342-16del | ENSP00000512521.1:n.4342-16del | |
| ENST00000697921.1:n.3202-16del | ||
| ENST00000697922.1:c.*4314-16del | ENSP00000513478.1:n.*4314-16del | |
| ENST00000697923.1:n.4769-16del | ||
| ENST00000223642.3:c.4324-16del MANE Select | ENSP00000223642.1:n.4324-16del | |
| ENST00000223642.2:c.4324-16del | ENSP00000223642.1:n.4324-16del | |
| NM_001735.2:c.4324-16del , LRG_28t1:c.4324-16del | NP_001726.2:n.4324-16del | |
| XM_011518980.1:c.4339-16del | XP_011517282.1:n.4339-16del | |
| NM_001317163.1:c.4342-16del | NP_001304092.1:n.4342-16del | |
| NM_001317163.2:c.4342-16del | NP_001304092.1:n.4342-16del | |
| NM_001735.3:c.4324-16del MANE Select | NP_001726.2:n.4324-16del |