Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155463240_155463241insTG , CM000669.2:g.155463240_155463241insTG | GRCh38 |
| NC_000007.13:g.155255935_155255936insTG , CM000669.1:g.155255935_155255936insTG | GRCh37 |
| NC_000007.12:g.154948696_154948697insTG | NCBI36 |
| NG_007124.1:g.11521_11522insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297375.4:c.*553_*554insTG MANE Select | ENSP00000297375.4:n.*553_*554insTG | |
| NM_001427.3:c.*553_*554insTG | NP_001418.2:n.*553_*554insTG | |
| NM_001427.4:c.*553_*554insTG MANE Select | NP_001418.2:n.*553_*554insTG |