Linked Data
dbSNP Id:
rs1245086702
MyVariant Identifiers:
chr18:g.11881982_11881983insAACA (hg19)
chr18:g.11881983_11881984insAACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11881984_11881987dup , CM000680.2:g.11881984_11881987dup | GRCh38 |
| NC_000018.9:g.11881983_11881986dup , CM000680.1:g.11881983_11881986dup | GRCh37 |
| NC_000018.8:g.11871983_11871986dup | NCBI36 |
| NG_033866.1:g.197970_197973dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334049.11:c.*849_*852dup MANE Select | ENSP00000334051.5:n.*849_*852dup | |
| ENST00000423027.8:c.*849_*852dup MANE Plus Clinical | ENSP00000408489.2:n.*849_*852dup | |
| ENST00000334049.10:c.*849_*852dup | ENSP00000334051.5:n.*849_*852dup | |
| NM_001142339.2:c.*849_*852dup | NP_001135811.1:n.*849_*852dup | |
| NM_001261443.1:c.*849_*852dup | NP_001248372.1:n.*849_*852dup | |
| NM_001261444.1:c.*849_*852dup | NP_001248373.1:n.*849_*852dup | |
| NM_182978.3:c.*849_*852dup | NP_892023.1:n.*849_*852dup | |
| XM_024451164.1:c.*849_*852dup | XP_024306932.1:n.*849_*852dup | |
| NM_182978.4:c.*849_*852dup MANE Select | NP_892023.1:n.*849_*852dup | |
| NM_001261444.2:c.*849_*852dup | NP_001248373.1:n.*849_*852dup | |
| NM_001369387.1:c.*849_*852dup MANE Plus Clinical | NP_001356316.1:n.*849_*852dup | |
| NM_001142339.3:c.*849_*852dup | NP_001135811.1:n.*849_*852dup | |
| NM_001261443.2:c.*849_*852dup | NP_001248372.1:n.*849_*852dup |