Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583540_41583541insGCGCC , CM000679.2:g.41583540_41583541insGCGCC | GRCh38 |
| NC_000017.10:g.39739792_39739793insGCGCC , CM000679.1:g.39739792_39739793insGCGCC | GRCh37 |
| NC_000017.9:g.36993318_36993319insGCGCC | NCBI36 |
| NG_008624.1:g.8355_8356insGGCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1053+10_1053+11insGGCGC MANE Select | ENSP00000167586.6:n.1053+10_1053+11insGGCGC | |
| ENST00000167586.6:c.1053+10_1053+11insGGCGC | ENSP00000167586.6:n.1053+10_1053+11insGGCGC | |
| ENST00000476662.1:n.503+10_503+11insGGCGC | ||
| NM_000526.4:c.1053+10_1053+11insGGCGC | NP_000517.2:n.1053+10_1053+11insGGCGC | |
| NM_000526.5:c.1053+10_1053+11insGGCGC MANE Select | NP_000517.3:n.1053+10_1053+11insGGCGC |