Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196522_73196525delinsCAGG , CM000679.2:g.73196522_73196525delinsCAGG | GRCh38 |
| NC_000017.10:g.71192661_71192664delinsCAGG , CM000679.1:g.71192661_71192664delinsCAGG | GRCh37 |
| NC_000017.9:g.68704256_68704259delinsCAGG | NCBI36 |
| NG_008971.1:g.8489_8492delinsCAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.331_334delinsCAGG MANE Select | ENSP00000299886.4:p.Gln111= | |
| ENST00000299886.8:c.331_334delinsCAGG | ENSP00000299886.4:p.Gln111= | |
| ENST00000438720.7:c.329_332delinsCAGG | ||
| ENST00000582587.2:c.328_331delinsCAGG | ||
| ENST00000618996.4:c.331_334delinsCAGG | ENSP00000479450.1:p.Gln111= | |
| NM_018714.2:c.331_334delinsCAGG | NP_061184.1:p.Gln111= | |
| NM_018714.3:c.331_334delinsCAGG MANE Select | NP_061184.1:p.Gln111= |