Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117090_19117092delinsGC , CM000669.2:g.19117090_19117092delinsGC | GRCh38 |
| NC_000007.13:g.19156713_19156715delinsGC , CM000669.1:g.19156713_19156715delinsGC | GRCh37 |
| NC_000007.12:g.19123238_19123240delinsGC | NCBI36 |
| NG_008114.1:g.5581_5583delinsGC | |
| NG_008114.2:g.5581_5583delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.230_232delinsGC MANE Select | ENSP00000242261.5:p.Lys77SerfsTer? | |
| ENST00000242261.5:c.230_232delinsGC | ENSP00000242261.5:p.Lys77SerfsTer? | |
| ENST00000354571.5:c.27_29delinsGC | ||
| NM_000474.3:c.230_232delinsGC | NP_000465.1:p.Lys77SerfsTer? | |
| XM_011515496.1:c.230_232delinsGC | XP_011513798.1:p.Lys77SerfsTer? | |
| NR_149001.1:n.581_583delinsGC | ||
| NM_000474.4:c.230_232delinsGC MANE Select | NP_000465.1:p.Lys77SerfsTer? | |
| NR_149001.2:n.545_547delinsGC |