Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854347_127854363delinsGCGGTCCATGCTGTCCA , CM000671.2:g.127854347_127854363delinsGCGGTCCATGCTGTCCA | GRCh38 |
| NC_000009.11:g.130616626_130616642delinsGCGGTCCATGCTGTCCA , CM000671.1:g.130616626_130616642delinsGCGGTCCATGCTGTCCA | GRCh37 |
| NC_000009.10:g.129656447_129656463delinsGCGGTCCATGCTGTCCA | NCBI36 |
| NG_009551.1:g.5406_5422delinsTGGACAGCATGGACCGC , LRG_589:g.5406_5422delinsTGGACAGCATGGACCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.-8_9delinsTGGACAGCATGGACCGC | ||
| ENST00000344849.4:c.-8_9delinsTGGACAGCATGGACCGC | ||
| ENST00000373203.8:c.-8_9delinsTGGACAGCATGGACCGC | ||
| NM_000118.3:c.-8_9delinsTGGACAGCATGGACCGC , LRG_589t1:c.-8_9delinsTGGACAGCATGGACCGC | ||
| NM_001114753.2:c.-8_9delinsTGGACAGCATGGACCGC , LRG_589t2:c.-8_9delinsTGGACAGCATGGACCGC | ||
| NM_001114753.3:c.-8_9delinsTGGACAGCATGGACCGC |