ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156873822_156873823delinsCT , CM000663.2:g.156873822_156873823delinsCT | GRCh38 |
| NC_000001.10:g.156843614_156843615delinsCT , CM000663.1:g.156843614_156843615delinsCT | GRCh37 |
| NC_000001.9:g.155110238_155110239delinsCT | NCBI36 |
| NG_007493.1:g.63073_63074delinsCT , LRG_261:g.63073_63074delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.878_879delinsCT | ENSP00000502725.1:p.Arg293Pro | |
| ENST00000392302.7:c.878_879delinsCT | ENSP00000376120.3:p.Arg293Pro | |
| ENST00000497019.7:c.745_746delinsCT | ENSP00000436804.2:p.Ala249Leu | |
| ENST00000524377.7:c.1040_1041delinsCT MANE Select | ENSP00000431418.1:p.Arg347Pro | |
| ENST00000674537.1:c.878_879delinsCT | ENSP00000502725.1:p.Arg293Pro | |
| ENST00000358660.3:c.1040_1041delinsCT | ENSP00000351486.3:p.Arg347Pro | |
| ENST00000368196.7:c.1040_1041delinsCT | ENSP00000357179.3:p.Arg347Pro | |
| ENST00000392302.6:c.950_951delinsCT | ENSP00000376120.2:p.Arg317Pro | |
| ENST00000489021.6:n.502_503delinsCT | ||
| ENST00000497019.6:c.817_818delinsCT | ENSP00000436804.1:p.Ala273Leu | |
| ENST00000524377.5:c.1040_1041delinsCT | ENSP00000431418.1:p.Arg347Pro | |
| ENST00000530298.5:n.1098_1099delinsCT | ||
| NM_001007792.1:c.950_951delinsCT , LRG_261t1:c.950_951delinsCT | NP_001007793.1:p.Arg317Pro | |
| NM_001012331.1:c.1040_1041delinsCT , LRG_261t2:c.1040_1041delinsCT | NP_001012331.1:p.Arg347Pro | |
| NM_002529.3:c.1040_1041delinsCT , LRG_261t3:c.1040_1041delinsCT | NP_002520.2:p.Arg347Pro | |
| NM_001012331.2:c.1040_1041delinsCT | NP_001012331.1:p.Arg347Pro | |
| NM_002529.4:c.1040_1041delinsCT MANE Select | NP_002520.2:p.Arg347Pro |