Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357251_31357252insCCCG , CM000668.2:g.31357251_31357252insCCCG | GRCh38 |
| NC_000006.11:g.31325028_31325029insCCCG , CM000668.1:g.31325028_31325029insCCCG | GRCh37 |
| NC_000006.10:g.31433007_31433008insCCCG | NCBI36 |
| NG_023187.1:g.4961_4962insCGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1380_1381insCGGG | ||
| ENST00000481849.6:n.1380_1381insCGGG | ||
| ENST00000497377.6:n.1380_1381insCGGG | ||
| ENST00000696559.1:c.-94_-93insCGGG | ENSP00000512717.1:n.-94_-93insCGGG | |
| ENST00000696560.1:c.-94_-93insCGGG | ENSP00000512718.1:n.-94_-93insCGGG | |
| ENST00000696561.1:c.-94_-93insCGGG | ENSP00000512719.1:n.-94_-93insCGGG | |
| ENST00000696562.1:c.-94_-93insCGGG | ENSP00000512720.1:n.-94_-93insCGGG | |
| ENST00000603274.1:n.605_606insCCCG |