Linked Data
dbSNP Id:
rs1164508725
MyVariant Identifiers:
chr17:g.54672448_54672449insCTGTAATG (hg19)
chr17:g.56595087_56595088insCTGTAATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595089_56595096dup , CM000679.2:g.56595089_56595096dup | GRCh38 |
| NC_000017.10:g.54672450_54672457dup , CM000679.1:g.54672450_54672457dup | GRCh37 |
| NC_000017.9:g.52027449_52027456dup | NCBI36 |
| NG_011958.1:g.6391_6398dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*167_*174dup MANE Select | ENSP00000328181.4:n.*167_*174dup | |
| ENST00000332822.4:c.*167_*174dup | ENSP00000328181.4:n.*167_*174dup | |
| NM_005450.4:c.*167_*174dup | NP_005441.1:n.*167_*174dup | |
| NM_005450.6:c.*167_*174dup MANE Select | NP_005441.1:n.*167_*174dup |