Linked Data
dbSNP Id:
rs1659941390
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431762dup , CM000663.2:g.229431762dup | GRCh38 |
| NC_000001.10:g.229567509dup , CM000663.1:g.229567509dup | GRCh37 |
| NC_000001.9:g.227634132dup | NCBI36 |
| NG_006672.1:g.7337dup , LRG_429:g.7337dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.951dup | ENSP00000355644.4:p.Glu318ArgfsTer? | |
| ENST00000684723.1:c.816dup | ENSP00000508084.1:p.Glu273ArgfsTer? | |
| ENST00000366683.3:c.582dup | ENSP00000355644.3:p.Glu195ArgfsTer? | |
| ENST00000366684.7:c.951dup MANE Select | ENSP00000355645.3:p.Glu318ArgfsTer? | |
| NM_001100.3:c.951dup , LRG_429t1:c.951dup | NP_001091.1:p.Glu318ArgfsTer? | |
| NM_001100.4:c.951dup MANE Select | NP_001091.1:p.Glu318ArgfsTer? |