Linked Data
ClinVar Variation Id:
425394
ClinVar RCV Id:
RCV000487795
dbSNP Id:
rs1064797329
gnomAD v2:
6-139694288-G-GGCT
gnomAD v4:
6-139373151-G-GGCT
MyVariant Identifiers:
chr6:g.139694288_139694289insGCT (hg19)
chr6:g.139373151_139373152insGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373156_139373158dup , CM000668.2:g.139373156_139373158dup | GRCh38 |
| NC_000006.11:g.139694293_139694295dup , CM000668.1:g.139694293_139694295dup | GRCh37 |
| NC_000006.10:g.139735986_139735988dup | NCBI36 |
| NG_016169.1:g.6495_6497dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367651.4:c.791_793dup MANE Select | ENSP00000356623.2:p.Gln264_Pro265insGln | |
| ENST00000367651.3:c.791_793dup | ENSP00000356623.2:p.Gln264_Pro265insGln | |
| ENST00000536159.2:c.791_793dup | ENSP00000442831.1:p.Gln264_Pro265insGln | |
| ENST00000537332.2:c.806_808dup | ENSP00000444198.2:p.Gln269_Pro270insGln | |
| ENST00000618718.1:c.620_622dup | ENSP00000479918.1:p.Gln207_Pro208insGln | |
| NM_001168388.2:c.791_793dup | NP_001161860.1:p.Gln264_Pro265insGln | |
| NM_001168389.2:c.806_808dup | NP_001161861.2:p.Gln269_Pro270insGln | |
| NM_006079.4:c.791_793dup | NP_006070.2:p.Gln264_Pro265insGln | |
| NM_006079.5:c.791_793dup MANE Select | NP_006070.2:p.Gln264_Pro265insGln | |
| NM_001168388.3:c.791_793dup | NP_001161860.1:p.Gln264_Pro265insGln | |
| NM_001168389.3:c.806_808dup | NP_001161861.2:p.Gln269_Pro270insGln |