Linked Data
dbSNP Id:
rs970228906
gnomAD v3:
6-139372949-G-GAA
gnomAD v4:
6-139372949-G-GAA
MyVariant Identifiers:
chr6:g.139694086_139694087insAA (hg19)
chr6:g.139372949_139372950insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139372956_139372957dup , CM000668.2:g.139372956_139372957dup | GRCh38 |
| NC_000006.11:g.139694093_139694094dup , CM000668.1:g.139694093_139694094dup | GRCh37 |
| NC_000006.10:g.139735786_139735787dup | NCBI36 |
| NG_016169.1:g.6698_6699dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.*181_*182dup MANE Select | ENSP00000356623.2:n.*181_*182dup | |
| ENST00000367651.3:c.*181_*182dup | ENSP00000356623.2:n.*181_*182dup | |
| ENST00000536159.2:c.*181_*182dup | ENSP00000442831.1:n.*181_*182dup | |
| ENST00000537332.2:c.*181_*182dup | ENSP00000444198.2:n.*181_*182dup | |
| NM_001168388.2:c.*181_*182dup | NP_001161860.1:n.*181_*182dup | |
| NM_001168389.2:c.*181_*182dup | NP_001161861.2:n.*181_*182dup | |
| NM_006079.4:c.*181_*182dup | NP_006070.2:n.*181_*182dup | |
| NM_006079.5:c.*181_*182dup MANE Select | NP_006070.2:n.*181_*182dup | |
| NM_001168388.3:c.*181_*182dup | NP_001161860.1:n.*181_*182dup | |
| NM_001168389.3:c.*181_*182dup | NP_001161861.2:n.*181_*182dup |