Linked Data
dbSNP Id:
rs2046849944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727840_82727843dup , CM000679.2:g.82727840_82727843dup | GRCh38 |
| NC_000017.10:g.80685716_80685719dup , CM000679.1:g.80685716_80685719dup | GRCh37 |
| NC_000017.9:g.78279005_78279008dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*669_*672dup MANE Select | ENSP00000269373.6:n.*669_*672dup | |
| ENST00000269373.10:c.*669_*672dup | ENSP00000269373.6:n.*669_*672dup | |
| ENST00000571594.1:c.53+673_53+676dup | ENSP00000459751.1:n.53+673_53+676dup | |
| NM_024619.3:c.*669_*672dup | NP_078895.2:n.*669_*672dup | |
| NR_046408.1:n.1777_1780dup | ||
| XM_024450948.1:c.*669_*672dup | XP_024306716.1:n.*669_*672dup | |
| NM_024619.4:c.*669_*672dup MANE Select | NP_078895.2:n.*669_*672dup | |
| NR_046408.2:n.1777_1780dup |