Linked Data
dbSNP Id:
rs2102735881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432314_229432315insAT , CM000663.2:g.229432314_229432315insAT | GRCh38 |
| NC_000001.10:g.229568061_229568062insAT , CM000663.1:g.229568061_229568062insAT | GRCh37 |
| NC_000001.9:g.227634684_227634685insAT | NCBI36 |
| NG_006672.1:g.6782_6783insAT , LRG_429:g.6782_6783insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.571_572insAT | ENSP00000355644.4:p.Leu191HisfsTer2 | |
| ENST00000684723.1:c.436_437insAT | ENSP00000508084.1:p.Leu146HisfsTer2 | |
| ENST00000366683.3:c.479+92_479+93insAT | ENSP00000355644.3:n.479+92_479+93insAT | |
| ENST00000366684.7:c.571_572insAT MANE Select | ENSP00000355645.3:p.Leu191HisfsTer2 | |
| NM_001100.3:c.571_572insAT , LRG_429t1:c.571_572insAT | NP_001091.1:p.Leu191HisfsTer2 | |
| NM_001100.4:c.571_572insAT MANE Select | NP_001091.1:p.Leu191HisfsTer2 |