Linked Data
ClinVar Variation Id:
818170
dbSNP Id:
rs750585274
gnomAD v3:
X-25013539-G-GGCCGCGGCCGCGGCT
gnomAD v4:
X-25013539-G-GGCCGCGGCCGCGGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013548_25013562dup , CM000685.2:g.25013548_25013562dup | GRCh38 |
| NC_000023.10:g.25031665_25031679dup , CM000685.1:g.25031665_25031679dup | GRCh37 |
| NC_000023.9:g.24941586_24941600dup | NCBI36 |
| NG_008281.1:g.7395_7409dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.441_455dup MANE Select | ENSP00000368332.4:p.Ala152_Ala153insAlaAl... | |
| ENST00000379044.4:c.441_455dup | ENSP00000368332.4:p.Ala152_Ala153insAlaAl... | |
| NM_139058.2:c.441_455dup | NP_620689.1:p.Ala152_Ala153insAlaAlaAlaAl... | |
| NM_139058.3:c.441_455dup MANE Select | NP_620689.1:p.Ala152_Ala153insAlaAlaAlaAl... |