Linked Data
dbSNP Id:
rs71139919
gnomAD v3:
17-56595031-C-CTTT
gnomAD v4:
17-56595031-C-CTTT
MyVariant Identifiers:
chr17:g.54672392_54672393insTTT (hg19)
chr17:g.56595031_56595032insTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595055_56595057dup , CM000679.2:g.56595055_56595057dup | GRCh38 |
| NC_000017.10:g.54672416_54672418dup , CM000679.1:g.54672416_54672418dup | GRCh37 |
| NC_000017.9:g.52027415_52027417dup | NCBI36 |
| NG_011958.1:g.6357_6359dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*133_*135dup MANE Select | ENSP00000328181.4:n.*133_*135dup | |
| ENST00000332822.4:c.*133_*135dup | ENSP00000328181.4:n.*133_*135dup | |
| NM_005450.4:c.*133_*135dup | NP_005441.1:n.*133_*135dup | |
| NM_005450.6:c.*133_*135dup MANE Select | NP_005441.1:n.*133_*135dup |