Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255470_133255474delinsCTGTG , CM000671.2:g.133255470_133255474delinsCTGTG | GRCh38 |
| NC_000009.11:g.136130857_136130861delinsCTGTG , CM000671.1:g.136130857_136130861delinsCTGTG | GRCh37 |
| NC_000009.10:g.135120678_135120682delinsCTGTG | NCBI36 |
| NG_006669.1:g.22194_22198delinsCACAG | |
| NG_006669.2:g.24742_24746delinsCACAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1286_1290delinsCACAG | ||
| ENST00000647353.1:n.54-4322_54-4318delinsCACAG | ||
| ENST00000679909.1:c.28+19688_28+19692delinsCACAG | ENSP00000506089.1:n.28+19688_28+19692delinsCACAG | |
| ENST00000453660.3:n.1268_1272delinsCACAG | ||
| ENST00000611156.4:c.*192_*196delinsCACAG | ENSP00000483265.1:n.*192_*196delinsCACAG | |
| NM_020469.2:c.*192_*196delinsCACAG | NP_065202.2:n.*192_*196delinsCACAG | |
| NM_020469.3:c.*192_*196delinsCACAG | NP_065202.2:n.*192_*196delinsCACAG |