Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028745_135028752delinsTCCGGCCG , CM000667.2:g.135028745_135028752delinsTCCGGCCG | GRCh38 |
| NC_000005.9:g.134364435_134364442delinsTCCGGCCG , CM000667.1:g.134364435_134364442delinsTCCGGCCG | GRCh37 |
| NC_000005.8:g.134392334_134392341delinsTCCGGCCG | NCBI36 |
| NG_012114.1:g.10523_10530delinsCGGCCGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*27_*34delinsCGGCCGGA MANE Select | ENSP00000265340.6:n.*27_*34delinsCGGCCGGA | |
| ENST00000265340.11:c.*27_*34delinsCGGCCGGA | ENSP00000265340.6:n.*27_*34delinsCGGCCGGA | |
| ENST00000506438.5:c.*27_*34delinsCGGCCGGA | ENSP00000427542.1:n.*27_*34delinsCGGCCGGA | |
| NM_002653.4:c.*27_*34delinsCGGCCGGA | NP_002644.4:n.*27_*34delinsCGGCCGGA | |
| NM_002653.5:c.*27_*34delinsCGGCCGGA MANE Select | NP_002644.4:n.*27_*34delinsCGGCCGGA |