Linked Data
dbSNP Id:
rs1255751155
gnomAD v2:
1-204159620-G-GCCCCTGCGCCCTCAGCCCCA
gnomAD v3:
1-204190492-G-GCCCCTGCGCCCTCAGCCCCA
gnomAD v4:
1-204190492-G-GCCCCTGCGCCCTCAGCCCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190495_204190496insCTGCGCCCTCAGCCCCACCC , CM000663.2:g.204190495_204190496insCTGCGCCCTCAGCCCCACCC | GRCh38 |
| NC_000001.10:g.204159623_204159624insCTGCGCCCTCAGCCCCACCC , CM000663.1:g.204159623_204159624insCTGCGCCCTCAGCCCCACCC | GRCh37 |
| NC_000001.9:g.202426246_202426247insCTGCGCCCTCAGCCCCACCC | NCBI36 |
| NG_032151.1:g.10999_11000insTGGGGCTGAGGGCGCAGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.408_409insTGGGGCTGAGGGCGCAGGGG MANE Select | ENSP00000356162.4:p.Arg137TrpfsTer3 | |
| ENST00000367194.4:c.408_409insTGGGGCTGAGGGCGCAGGGG | ENSP00000356162.4:p.Arg137TrpfsTer3 | |
| ENST00000625357.1:c.408_409insTGGGGCTGAGGGCGCAGGGG | ENSP00000485957.1:p.Arg137TrpfsTer3 | |
| NM_002256.3:c.408_409insTGGGGCTGAGGGCGCAGGGG | NP_002247.3:p.Arg137TrpfsTer3 | |
| XM_011509525.1:c.408_409insTGGGGCTGAGGGCGCAGGGG | XP_011507827.1:p.Arg137TrpfsTer3 | |
| NM_002256.4:c.408_409insTGGGGCTGAGGGCGCAGGGG MANE Select | NP_002247.3:p.Arg137TrpfsTer3 |