Linked Data
dbSNP Id:
rs1432859993
gnomAD v3:
17-56594995-C-CAGTT
gnomAD v4:
17-56594995-C-CAGTT
MyVariant Identifiers:
chr17:g.54672356_54672357insAGTT (hg19)
chr17:g.56594995_56594996insAGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594996_56594999dup , CM000679.2:g.56594996_56594999dup | GRCh38 |
| NC_000017.10:g.54672357_54672360dup , CM000679.1:g.54672357_54672360dup | GRCh37 |
| NC_000017.9:g.52027356_52027359dup | NCBI36 |
| NG_011958.1:g.6298_6301dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*74_*77dup MANE Select | ENSP00000328181.4:n.*74_*77dup | |
| ENST00000332822.4:c.*74_*77dup | ENSP00000328181.4:n.*74_*77dup | |
| NM_005450.4:c.*74_*77dup | NP_005441.1:n.*74_*77dup | |
| NM_005450.6:c.*74_*77dup MANE Select | NP_005441.1:n.*74_*77dup |