Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117062_19117068delinsGCGCCGC , CM000669.2:g.19117062_19117068delinsGCGCCGC | GRCh38 |
| NC_000007.13:g.19156685_19156691delinsGCGCCGC , CM000669.1:g.19156685_19156691delinsGCGCCGC | GRCh37 |
| NC_000007.12:g.19123210_19123216delinsGCGCCGC | NCBI36 |
| NG_008114.1:g.5605_5611delinsGCGGCGC | |
| NG_008114.2:g.5605_5611delinsGCGGCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.254_260delinsGCGGCGC MANE Select | ENSP00000242261.5:p.Gly85= | |
| ENST00000242261.5:c.254_260delinsGCGGCGC | ENSP00000242261.5:p.Gly85= | |
| ENST00000354571.5:c.51_57delinsGCGGCGC | ||
| NM_000474.3:c.254_260delinsGCGGCGC | NP_000465.1:p.Gly85= | |
| XM_011515496.1:c.254_260delinsGCGGCGC | XP_011513798.1:p.Gly85= | |
| NR_149001.1:n.605_611delinsGCGGCGC | ||
| NM_000474.4:c.254_260delinsGCGGCGC MANE Select | NP_000465.1:p.Gly85= | |
| NR_149001.2:n.569_575delinsGCGGCGC |