Linked Data
dbSNP Id:
rs2052474769
gnomAD v2:
17-54672417-T-TC
gnomAD v3:
17-56595056-T-TC
gnomAD v4:
17-56595056-T-TC
MyVariant Identifiers:
chr17:g.54672418_54672419delinsCTC (hg19)
chr17:g.56595057_56595058delinsCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595056_56595057insC , CM000679.2:g.56595056_56595057insC | GRCh38 |
| NC_000017.10:g.54672417_54672418insC , CM000679.1:g.54672417_54672418insC | GRCh37 |
| NC_000017.9:g.52027416_52027417insC | NCBI36 |
| NG_011958.1:g.6358_6359insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*134_*135insC MANE Select | ENSP00000328181.4:n.*134_*135insC | |
| ENST00000332822.4:c.*134_*135insC | ENSP00000328181.4:n.*134_*135insC | |
| NM_005450.4:c.*134_*135insC | NP_005441.1:n.*134_*135insC | |
| NM_005450.6:c.*134_*135insC MANE Select | NP_005441.1:n.*134_*135insC |