Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152790_80152791insCTGACCAC , CM000677.2:g.80152790_80152791insCTGACCAC | GRCh38 |
| NC_000015.9:g.80445132_80445133insCTGACCAC , CM000677.1:g.80445132_80445133insCTGACCAC | GRCh37 |
| NC_000015.8:g.78232187_78232188insCTGACCAC | NCBI36 |
| NG_012833.1:g.4792_4793insCTGACCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407106.5:c.-145_-144insCTGACCAC | ENSP00000385080.1:n.-145_-144insCTGACCAC | |
| ENST00000537726.5:n.2_3insCTGACCAC | ||
| ENST00000558022.5:c.-29-236_-29-235insCTGACCAC | ENSP00000453152.1:n.-29-236_-29-235insCTGACCAC | |
| NM_001374377.1:c.-145_-144insCTGACCAC | NP_001361306.1:n.-145_-144insCTGACCAC | |
| NM_001374380.1:c.-81_-80insCTGACCAC | NP_001361309.1:n.-81_-80insCTGACCAC |