Linked Data
dbSNP Id:
rs528100239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746019_41746020insG , CM000666.2:g.41746019_41746020insG | GRCh38 |
| NC_000004.11:g.41748036_41748037insG , CM000666.1:g.41748036_41748037insG | GRCh37 |
| NC_000004.10:g.41442793_41442794insG | NCBI36 |
| NG_008243.1:g.7951_7952insC , LRG_513:g.7951_7952insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.732_733insC MANE Select | ENSP00000226382.2:p.Ala245ArgfsTer? | |
| ENST00000226382.3:c.732_733insC | ENSP00000226382.2:p.Ala245ArgfsTer? | |
| NM_003924.3:c.732_733insC , LRG_513t1:c.732_733insC | NP_003915.2:p.Ala245ArgfsTer? | |
| NM_003924.4:c.732_733insC MANE Select | NP_003915.2:p.Ala245ArgfsTer? |