Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992678_177992679delinsTG , CM000667.2:g.177992678_177992679delinsTG | GRCh38 |
| NC_000005.9:g.177419679_177419680delinsTG , CM000667.1:g.177419679_177419680delinsTG | GRCh37 |
| NC_000005.8:g.177352285_177352286delinsTG | NCBI36 |
| NG_015889.1:g.8564_8565delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.*30_*31delinsCA MANE Select | ENSP00000311290.2:n.*30_*31delinsCA | |
| NM_006261.4:c.*30_*31delinsCA | NP_006252.3:n.*30_*31delinsCA | |
| NM_006261.5:c.*30_*31delinsCA MANE Select | NP_006252.4:n.*30_*31delinsCA |