Linked Data
ClinVar Variation Id:
1911097
ClinVar RCV Id:
RCV002589608
dbSNP Id:
rs1763352907
gnomAD v4:
5-151829074-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151829079dup , CM000667.2:g.151829079dup | GRCh38 |
| NC_000005.9:g.151208640dup , CM000667.1:g.151208640dup | GRCh37 |
| NC_000005.8:g.151188833dup | NCBI36 |
| NG_011764.1:g.100762dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.913-8dup MANE Select | ENSP00000274576.5:n.913-8dup | |
| ENST00000274576.8:c.913-8dup | ENSP00000274576.4:n.913-8dup | |
| ENST00000455880.2:c.913-8dup | ENSP00000411593.2:n.913-8dup | |
| ENST00000462581.6:c.*671-8dup | ENSP00000430595.1:n.*671-8dup | |
| NM_000171.3:c.913-8dup | NP_000162.2:n.913-8dup | |
| NM_001146040.1:c.913-8dup | NP_001139512.1:n.913-8dup | |
| NM_001292000.1:c.664-8dup | NP_001278929.1:n.664-8dup | |
| NM_000171.4:c.913-8dup MANE Select | NP_000162.2:n.913-8dup | |
| NM_001146040.2:c.913-8dup | NP_001139512.1:n.913-8dup | |
| NM_001292000.2:c.664-8dup | NP_001278929.1:n.664-8dup |