Linked Data
dbSNP Id:
rs774873801
ExAC:
17:39739664 T / TCCC
MyVariant Identifiers:
chr17:g.39739664_39739665insCCC (hg19)
chr17:g.41583412_41583413insCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583412_41583413insCCC , CM000679.2:g.41583412_41583413insCCC | GRCh38 |
| NC_000017.10:g.39739664_39739665insCCC , CM000679.1:g.39739664_39739665insCCC | GRCh37 |
| NC_000017.9:g.36993190_36993191insCCC | NCBI36 |
| NG_008624.1:g.8483_8484insGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1096_1097insGGG MANE Select | ENSP00000167586.6:p.Tyr366delinsTrpAsp | |
| ENST00000167586.6:c.1096_1097insGGG | ENSP00000167586.6:p.Tyr366delinsTrpAsp | |
| ENST00000441550.2:n.43_44insGGG | ||
| ENST00000476662.1:n.546_547insGGG | ||
| NM_000526.4:c.1096_1097insGGG | NP_000517.2:p.Tyr366delinsTrpAsp | |
| NM_000526.5:c.1096_1097insGGG MANE Select | NP_000517.3:p.Tyr366delinsTrpAsp |