Canonical Allele Identifier:
CA2000590797
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112166916_112166956delinsATTAAAGCCTTCCTGCAAACAGAGCATCTGCAAACGCAGTT , CM000673.2:g.112166916_112166956delinsATTAAAGCCTTCCTGCAAACAGAGCATCTGCAAACGCAGTT | GRCh38 |
| NC_000011.9:g.112037639_112037679delinsATTAAAGCCTTCCTGCAAACAGAGCATCTGCAAACGCAGTT , CM000673.1:g.112037639_112037679delinsATTAAAGCCTTCCTGCAAACAGAGCATCTGCAAACGCAGTT | GRCh37 |
| NC_000011.8:g.111542849_111542889delinsATTAAAGCCTTCCTGCAAACAGAGCATCTGCAAACGCAGTT | NCBI36 |
| NG_028143.1:g.2162_2202delinsAACTGCGTTTGCAGATGCTCTGTTTGCAGGAAGGCTTTAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525987.5:n.320-3503_320-3463delinsATTAAAGCCTTCCTGCAAACAGAGCATCTGCAAACGCAGTT | ||
| ENST00000531744.5:c.315-3503_315-3463delinsATTAAAGCCTTCCTGCAAACAGAGCATCTGCAAACGCAGTT | ENSP00000456957.1:n.315-3503_315-3463delinsATTAAAGCCTTCCTGCAA... | |
| ENST00000532699.1:c.315-3503_315-3463delinsATTAAAGCCTTCCTGCAAACAGAGCATCTGCAAACGCAGTT | ENSP00000456434.1:n.315-3503_315-3463delinsATTAAAGCCTTCCTGCAA... |