Linked Data
ClinVar Variation Id:
426674
ClinVar RCV Id:
RCV000490030
dbSNP Id:
rs1085307738
gnomAD v4:
12-32755258-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32755259dup , CM000674.2:g.32755259dup | GRCh38 |
| NC_000012.11:g.32908193dup , CM000674.1:g.32908193dup | GRCh37 |
| NC_000012.10:g.32799460dup | NCBI36 |
| NG_028122.1:g.5695dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.616dup MANE Select | ENSP00000320658.8:p.Leu206ProfsTer23 | |
| ENST00000324868.12:c.616dup | ENSP00000320658.8:p.Leu206ProfsTer23 | |
| ENST00000548490.1:c.538dup | ENSP00000447710.1:p.Leu180ProfsTer23 | |
| NM_001040436.2:c.616dup | NP_001035526.1:p.Leu206ProfsTer23 | |
| XR_242891.3:n.703dup | ||
| XR_242892.3:n.703dup | ||
| XR_429036.1:n.703dup | ||
| XR_931296.1:n.703dup | ||
| XR_931297.1:n.703dup | ||
| XR_931298.1:n.703dup | ||
| XR_931299.1:n.703dup | ||
| XR_001748730.2:n.1200dup | ||
| XR_002957331.1:n.1200dup | ||
| XR_242892.5:n.1200dup | ||
| XR_931296.3:n.1200dup | ||
| NM_001040436.3:c.616dup MANE Select | NP_001035526.1:p.Leu206ProfsTer23 |