Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414398_1414400delinsTGG , CM000667.2:g.1414398_1414400delinsTGG | GRCh38 |
| NC_000005.9:g.1414513_1414515delinsTGG , CM000667.1:g.1414513_1414515delinsTGG | GRCh37 |
| NC_000005.8:g.1467513_1467515delinsTGG | NCBI36 |
| NG_015885.1:g.36029_36031delinsCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+291_1156+293delinsCCA MANE Select | ENSP00000270349.9:n.1156+291_1156+293delinsCCA | |
| ENST00000270349.11:c.1156+291_1156+293delinsCCA | ENSP00000270349.9:n.1156+291_1156+293delinsCCA | |
| NM_001044.4:c.1156+291_1156+293delinsCCA | NP_001035.1:n.1156+291_1156+293delinsCCA | |
| NM_001044.5:c.1156+291_1156+293delinsCCA MANE Select | NP_001035.1:n.1156+291_1156+293delinsCCA |