Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188988189_188990680delinsTATGCAAAATCAAAC , CM000664.2:g.188988189_188990680delinsTATGCAAAATCAAAC | GRCh38 |
| NC_000002.11:g.189852915_189855406delinsTATGCAAAATCAAAC , CM000664.1:g.189852915_189855406delinsTATGCAAAATCAAAC | GRCh37 |
| NC_000002.10:g.189561160_189563651delinsTATGCAAAATCAAAC | NCBI36 |
| NG_007404.1:g.18817_21308delinsTATGCAAAATCAAAC , LRG_3:g.18817_21308delinsTATGCAAAATCAAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.582+55_798+320delinsTATGCAAAATCAAAC | ||
| ENST00000304636.9:c.582+55_798+320delinsTATGCAAAATCAAAC | ||
| ENST00000304636.7:c.582+55_798+320delinsTATGCAAAATCAAAC | ||
| ENST00000317840.9:c.582+55_798+320delinsTATGCAAAATCAAAC | ||
| NM_000090.3:c.582+55_798+320delinsTATGCAAAATCAAAC , LRG_3t1:c.582+55_798+320delinsTATGCAAAATCAAAC | ||
| NM_000090.4:c.582+55_798+320delinsTATGCAAAATCAAAC |