Linked Data
ClinVar Variation Id:
590101
dbSNP Id:
rs1569395541
gnomAD v3:
X-25013545-G-GGCCGCGGCTGCCGCGGCGGCCCCT
gnomAD v4:
X-25013545-G-GGCCGCGGCTGCCGCGGCGGCCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013548_25013571dup , CM000685.2:g.25013548_25013571dup | GRCh38 |
| NC_000023.10:g.25031665_25031688dup , CM000685.1:g.25031665_25031688dup | GRCh37 |
| NC_000023.9:g.24941586_24941609dup | NCBI36 |
| NG_008281.1:g.7380_7403dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.426_449dup MANE Select | ENSP00000368332.4:p.Ala150_Ala151insGlyAl... | |
| ENST00000379044.4:c.426_449dup | ENSP00000368332.4:p.Ala150_Ala151insGlyAl... | |
| NM_139058.2:c.426_449dup | NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAl... | |
| NM_139058.3:c.426_449dup MANE Select | NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAl... |