Linked Data
ClinVar Variation Id:
1642787
ClinVar RCV Id:
RCV002143555
dbSNP Id:
rs1955225343
gnomAD v4:
12-57750639-GTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750641_57750642del , CM000674.2:g.57750641_57750642del | GRCh38 |
| NC_000012.11:g.58144424_58144425del , CM000674.1:g.58144424_58144425del | GRCh37 |
| NC_000012.10:g.56430691_56430692del | NCBI36 |
| NG_007484.2:g.6741_6742del , LRG_490:g.6741_6742del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.632+15_632+16del MANE Select | ENSP00000257904.5:n.632+15_632+16del | |
| ENST00000257904.10:c.632+15_632+16del | ENSP00000257904.5:n.632+15_632+16del | |
| ENST00000312990.10:c.280+15_280+16del | ENSP00000316889.6:n.280+15_280+16del | |
| ENST00000546489.5:c.410+15_410+16del | ENSP00000447779.1:n.410+15_410+16del | |
| ENST00000547281.5:c.410+15_410+16del | ENSP00000447274.1:n.410+15_410+16del | |
| ENST00000549606.5:c.-157-1137_-157-1136del | ENSP00000447005.1:n.-157-1137_-157-1136del | |
| ENST00000550419.5:c.523-78_523-77del | ENSP00000448098.1:n.523-78_523-77del | |
| ENST00000551888.5:n.458+15_458+16del | ||
| ENST00000553237.5:c.*271+15_*271+16del | ENSP00000448885.1:n.*271+15_*271+16del | |
| NM_000075.3:c.632+15_632+16del | NP_000066.1:n.632+15_632+16del | |
| NM_000075.4:c.632+15_632+16del MANE Select | NP_000066.1:n.632+15_632+16del |