Linked Data
dbSNP Id:
rs776794978
ExAC:
17:39743026 C / CGAT
gnomAD v4:
17-41586774-C-CGAT
MyVariant Identifiers:
chr17:g.39743026_39743027insGAT (hg19)
chr17:g.41586774_41586775insGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586776_41586778dup , CM000679.2:g.41586776_41586778dup | GRCh38 |
| NC_000017.10:g.39743028_39743030dup , CM000679.1:g.39743028_39743030dup | GRCh37 |
| NC_000017.9:g.36996554_36996556dup | NCBI36 |
| NG_008624.1:g.5119_5121dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.58_60dup MANE Select | ENSP00000167586.6:p.Ile20_Gly21insIle | |
| ENST00000167586.6:c.58_60dup | ENSP00000167586.6:p.Ile20_Gly21insIle | |
| NM_000526.4:c.58_60dup | NP_000517.2:p.Ile20_Gly21insIle | |
| NM_000526.5:c.58_60dup MANE Select | NP_000517.3:p.Ile20_Gly21insIle |