Canonical Allele Identifier:
CA2000590697
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112166674_112166690delinsTGCAGGTCAAAGCCTCC , CM000673.2:g.112166674_112166690delinsTGCAGGTCAAAGCCTCC | GRCh38 |
| NC_000011.9:g.112037397_112037413delinsTGCAGGTCAAAGCCTCC , CM000673.1:g.112037397_112037413delinsTGCAGGTCAAAGCCTCC | GRCh37 |
| NC_000011.8:g.111542607_111542623delinsTGCAGGTCAAAGCCTCC | NCBI36 |
| NG_028143.1:g.2428_2444delinsGGAGGCTTTGACCTGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525987.5:n.320-3745_320-3729delinsTGCAGGTCAAAGCCTCC | ||
| ENST00000531744.5:c.315-3745_315-3729delinsTGCAGGTCAAAGCCTCC | ENSP00000456957.1:n.315-3745_315-3729delinsTGCAGGTCAAAGCCTCC | |
| ENST00000532699.1:c.315-3745_315-3729delinsTGCAGGTCAAAGCCTCC | ENSP00000456434.1:n.315-3745_315-3729delinsTGCAGGTCAAAGCCTCC |