ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387933dup , CM000673.2:g.17387933dup | GRCh38 |
| NC_000011.9:g.17409480dup , CM000673.1:g.17409480dup | GRCh37 |
| NC_000011.8:g.17366056dup | NCBI36 |
| NG_012446.1:g.5728dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528992.2:c.-69dup | ENSP00000436479.2:n.-69dup | |
| ENST00000682350.1:c.-16-86dup | ENSP00000508090.1:n.-16-86dup | |
| ENST00000682764.1:c.-16-86dup | ENSP00000506780.1:n.-16-86dup | |
| ENST00000339994.5:c.160dup MANE Select | ENSP00000345708.4:p.Arg54ProfsTer? | |
| ENST00000339994.4:c.160dup | ENSP00000345708.4:p.Arg54ProfsTer? | |
| ENST00000526912.1:c.-16-86dup | ENSP00000432729.1:n.-16-86dup | |
| ENST00000528731.1:c.-16-86dup | ENSP00000434755.1:n.-16-86dup | |
| ENST00000528992.1:c.177dup | ||
| NM_000525.3:c.160dup | NP_000516.3:p.Arg54ProfsTer? | |
| NM_001166290.1:c.-16-86dup | NP_001159762.1:n.-16-86dup | |
| XM_006718226.2:c.-16-86dup | XP_006718289.1:n.-16-86dup | |
| XR_930867.1:n.318dup | ||
| XM_006718226.3:c.-16-86dup | XP_006718289.1:n.-16-86dup | |
| XM_017017680.1:c.-16-86dup | XP_016873169.1:n.-16-86dup | |
| NM_001166290.2:c.-16-86dup | NP_001159762.1:n.-16-86dup | |
| NM_001377296.1:c.-16-86dup | NP_001364225.1:n.-16-86dup | |
| NM_001377297.1:c.-16-86dup | NP_001364226.1:n.-16-86dup | |
| NM_000525.4:c.160dup MANE Select | NP_000516.3:p.Arg54ProfsTer? |