Linked Data
ClinVar Variation Id:
358776
ClinVar RCV Id:
RCV000262111
dbSNP Id:
rs36159526
gnomAD v2:
7-127250600-A-AGT
gnomAD v3:
7-127610546-A-AGT
gnomAD v4:
7-127610546-A-AGT
MyVariant Identifiers:
chr7:g.127250601_127250602dupGT (hg19)
chr7:g.127250604_127250605insGT (hg19)
chr7:g.127250601_127250602insTG (hg19)
chr7:g.127250600_127250601insGT (hg19)
chr7:g.127610547_127610548dupGT (hg38)
chr7:g.127610550_127610551insGT (hg38)
chr7:g.127610547_127610548insTG (hg38)
chr7:g.127610546_127610547insGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127610570_127610571dup , CM000669.2:g.127610570_127610571dup | GRCh38 |
| NC_000007.13:g.127250624_127250625dup , CM000669.1:g.127250624_127250625dup | GRCh37 |
| NC_000007.12:g.127037860_127037861dup | NCBI36 |
| NG_012848.1:g.10179_10180dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.*516_*517dup MANE Select | ENSP00000491782.1:n.*516_*517dup | |
| ENST00000341640.6:c.*516_*517dup | ENSP00000339906.2:n.*516_*517dup | |
| NM_006193.2:c.*516_*517dup | NP_006184.2:n.*516_*517dup | |
| NM_001366110.1:c.*516_*517dup MANE Select | NP_001353039.1:n.*516_*517dup | |
| NM_001366111.1:c.*304_*305dup | NP_001353040.1:n.*304_*305dup |