Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12107900_12107911delinsCTTTTCCAGGAG , CM000672.2:g.12107900_12107911delinsCTTTTCCAGGAG | GRCh38 |
| NC_000010.10:g.12149899_12149910delinsCTTTTCCAGGAG , CM000672.1:g.12149899_12149910delinsCTTTTCCAGGAG | GRCh37 |
| NC_000010.9:g.12189905_12189916delinsCTTTTCCAGGAG | NCBI36 |
| NG_033248.1:g.43984_43995delinsCTTTTCCAGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.2048-9_2050delinsCTTTTCCAGGAG | ||
| ENST00000263035.8:c.2048-9_2050delinsCTTTTCCAGGAG | ||
| ENST00000448829.1:c.551-9_553delinsCTTTTCCAGGAG | ||
| NM_018706.6:c.2048-9_2050delinsCTTTTCCAGGAG | ||
| NM_018706.7:c.2048-9_2050delinsCTTTTCCAGGAG |