Linked Data
dbSNP Id:
rs866862861
MyVariant Identifiers:
chr10:g.50818918_50818919insGATCT (hg19)
chr10:g.49610872_49610873insGATCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49610872_49610873insGATCT , CM000672.2:g.49610872_49610873insGATCT | GRCh38 |
| NC_000010.10:g.50818918_50818919insGATCT , CM000672.1:g.50818918_50818919insGATCT | GRCh37 |
| NC_000010.9:g.50488924_50488925insGATCT | NCBI36 |
| NG_011797.1:g.6778_6779insGATCT | |
| NG_053144.1:g.5572_5573insGATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.132_133insGATCT (SLC18A3) MANE Select | ENSP00000363229.3:p.Leu45AspfsTer14 | |
| ENST00000339797.5:c.-69+1673_-69+1674insGATCT (CHAT) | ENSP00000343486.1:n.-69+1673_-69+1674insGATCT | |
| ENST00000374115.4:c.132_133insGATCT (SLC18A3) | ENSP00000363229.3:p.Leu45AspfsTer14 | |
| NM_003055.2:c.132_133insGATCT (SLC18A3) | NP_003046.2:p.Leu45AspfsTer14 | |
| NM_020984.3:c.-69+1673_-69+1674insGATCT (CHAT) | NP_066264.3:n.-69+1673_-69+1674insGATCT | |
| NM_003055.3:c.132_133insGATCT (SLC18A3) MANE Select | NP_003046.2:p.Leu45AspfsTer14 | |
| NM_020984.4:c.-69+1673_-69+1674insGATCT (CHAT) | NP_066264.4:n.-69+1673_-69+1674insGATCT |