ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66086794_66086799dup , CM000669.2:g.66086794_66086799dup | GRCh38 |
| NC_000007.13:g.65551781_65551786dup , CM000669.1:g.65551781_65551786dup | GRCh37 |
| NC_000007.12:g.65189216_65189221dup | NCBI36 |
| NG_009288.1:g.16006_16011dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.575_580dup MANE Select | ENSP00000307188.9:p.Arg193_Ile194insLysArg | |
| ENST00000362000.10:c.380_385dup | ENSP00000354710.6:p.Arg128_Ile129insLysArg | |
| ENST00000380839.9:c.524+132_524+137dup | ENSP00000370219.4:n.524+132_524+137dup | |
| ENST00000395331.4:c.575_580dup | ENSP00000378740.3:p.Arg193_Ile194insLysArg | |
| ENST00000395332.8:c.575_580dup | ENSP00000378741.3:p.Arg193_Ile194insLysArg | |
| ENST00000671817.1:c.524+132_524+137dup | ENSP00000500462.1:n.524+132_524+137dup | |
| ENST00000672498.1:c.447-935_447-930dup | ENSP00000500227.1:n.447-935_447-930dup | |
| ENST00000672586.1:n.480_485dup | ||
| ENST00000672676.1:n.745_750dup | ||
| ENST00000673149.1:n.387_392dup | ||
| ENST00000673350.1:n.823_828dup | ||
| ENST00000673518.1:c.524+132_524+137dup | ENSP00000499889.1:n.524+132_524+137dup | |
| ENST00000673594.1:n.424_429dup | ||
| ENST00000304874.13:c.575_580dup | ENSP00000307188.9:p.Arg193_Ile194insLysArg | |
| ENST00000362000.9:c.380_385dup | ENSP00000354710.5:p.Arg128_Ile129insLysArg | |
| ENST00000380839.8:c.524+132_524+137dup | ENSP00000370219.4:n.524+132_524+137dup | |
| ENST00000395331.3:c.575_580dup | ENSP00000378740.3:p.Arg193_Ile194insLysArg | |
| ENST00000395332.7:c.575_580dup | ENSP00000378741.3:p.Arg193_Ile194insLysArg | |
| ENST00000487982.5:n.641_646dup | ||
| NM_000048.3:c.575_580dup | NP_000039.2:p.Arg193_Ile194insLysArg | |
| NM_001024943.1:c.575_580dup | NP_001020114.1:p.Arg193_Ile194insLysArg | |
| NM_001024944.1:c.575_580dup | NP_001020115.1:p.Arg193_Ile194insLysArg | |
| NM_001024946.1:c.524+132_524+137dup | NP_001020117.1:n.524+132_524+137dup | |
| NM_000048.4:c.575_580dup MANE Select | NP_000039.2:p.Arg193_Ile194insLysArg | |
| NM_001024943.2:c.575_580dup | NP_001020114.1:p.Arg193_Ile194insLysArg | |
| NM_001024944.2:c.575_580dup | NP_001020115.1:p.Arg193_Ile194insLysArg | |
| NM_001024946.2:c.524+132_524+137dup | NP_001020117.1:n.524+132_524+137dup |