Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612760_1612761insAGTA , CM000668.2:g.1612760_1612761insAGTA | GRCh38 |
| NC_000006.11:g.1612995_1612996insAGTA , CM000668.1:g.1612995_1612996insAGTA | GRCh37 |
| NC_000006.10:g.1557994_1557995insAGTA | NCBI36 |
| NG_009368.1:g.7315_7316insAGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*653_*654insAGTA MANE Select | ENSP00000493906.1:n.*653_*654insAGTA | |
| ENST00000380874.3:c.*653_*654insAGTA | ENSP00000370256.2:n.*653_*654insAGTA | |
| NM_001453.2:c.2315_2316insAGTA | NP_001444.2:n.2315_2316insAGTA | |
| NM_001453.3:c.*653_*654insAGTA MANE Select | NP_001444.2:n.*653_*654insAGTA |