Linked Data
dbSNP Id:
rs1821645590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575805dup , CM000670.2:g.86575805dup | GRCh38 |
| NC_000008.10:g.87588033dup , CM000670.1:g.87588033dup | GRCh37 |
| NC_000008.9:g.87657149dup | NCBI36 |
| NG_016980.1:g.172873dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.*1dup MANE Select | ENSP00000316605.5:n.*1dup | |
| ENST00000681546.1:n.2251dup | ||
| ENST00000681746.1:c.*842dup | ENSP00000505959.1:n.*842dup | |
| ENST00000320005.5:c.*1dup | ENSP00000316605.5:n.*1dup | |
| ENST00000517327.5:c.276+2886dup | ENSP00000428329.1:n.276+2886dup | |
| NM_019098.4:c.*1dup | NP_061971.3:n.*1dup | |
| XM_011517138.1:c.*1dup | XP_011515440.1:n.*1dup | |
| XM_011517138.2:c.*1dup | XP_011515440.1:n.*1dup | |
| NM_019098.5:c.*1dup MANE Select | NP_061971.3:n.*1dup |