Linked Data
ClinVar Variation Id:
1955490
ClinVar RCV Id:
RCV002720013
dbSNP Id:
rs75352237
gnomAD v2:
10-94366360-T-TA
gnomAD v3:
10-92606603-T-TA
gnomAD v4:
10-92606603-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92606605dup , CM000672.2:g.92606605dup | GRCh38 |
| NC_000010.10:g.94366362dup , CM000672.1:g.94366362dup | GRCh37 |
| NC_000010.9:g.94356342dup | NCBI36 |
| NG_032580.1:g.18538dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.211-14dup MANE Select | ENSP00000260731.3:n.211-14dup | |
| ENST00000676621.1:c.211-14dup | ENSP00000503639.1:n.211-14dup | |
| ENST00000676647.1:c.4-14dup | ENSP00000503394.1:n.4-14dup | |
| ENST00000676757.1:c.4-14dup | ENSP00000504289.1:n.4-14dup | |
| ENST00000677720.1:c.211-14dup | ENSP00000504840.1:n.211-14dup | |
| ENST00000260731.4:c.211-14dup | ENSP00000260731.3:n.211-14dup | |
| NM_004523.3:c.211-14dup | NP_004514.2:n.211-14dup | |
| NM_004523.4:c.211-14dup MANE Select | NP_004514.2:n.211-14dup |