Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381339_38381343delinsTAGGC , CM000685.2:g.38381339_38381343delinsTAGGC | GRCh38 |
| NC_000023.10:g.38240592_38240596delinsTAGGC , CM000685.1:g.38240592_38240596delinsTAGGC | GRCh37 |
| NC_000023.9:g.38125536_38125540delinsTAGGC | NCBI36 |
| NG_008471.1:g.33857_33861delinsTAGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.299-3_300delinsTAGGC | ||
| ENST00000643344.1:c.*49-3_*50delinsTAGGC | ||
| ENST00000039007.4:c.299-3_300delinsTAGGC | ||
| ENST00000465127.1:c.172-284782_172-284778delinsTAGGC | ENSP00000417050.1:n.172-284782_172-284778delinsTAGGC | |
| ENST00000488812.1:n.354-21_354-17delinsTAGGC | ||
| NM_000531.5:c.299-3_300delinsTAGGC | ||
| XM_017029556.1:c.299-3_300delinsTAGGC | ||
| NM_000531.6:c.299-3_300delinsTAGGC |