Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746021_41746022insACG , CM000666.2:g.41746021_41746022insACG | GRCh38 |
| NC_000004.11:g.41748038_41748039insACG , CM000666.1:g.41748038_41748039insACG | GRCh37 |
| NC_000004.10:g.41442795_41442796insACG | NCBI36 |
| NG_008243.1:g.7951_7952insTCG , LRG_513:g.7951_7952insTCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.732_733insTCG MANE Select | ENSP00000226382.2:p.Ala244_Ala245insSer | |
| ENST00000226382.3:c.732_733insTCG | ENSP00000226382.2:p.Ala244_Ala245insSer | |
| NM_003924.3:c.732_733insTCG , LRG_513t1:c.732_733insTCG | NP_003915.2:p.Ala244_Ala245insSer | |
| NM_003924.4:c.732_733insTCG MANE Select | NP_003915.2:p.Ala244_Ala245insSer |