Linked Data
ClinVar Variation Id:
65411
dbSNP Id:
rs775168204
gnomAD v2:
21-46911182-G-GC
gnomAD v3:
21-45491268-G-GC
gnomAD v4:
21-45491268-G-GC
MyVariant Identifiers:
chr21:g.46911189dupC (hg19)
chr21:g.46911183_46911184insC (hg19)
chr21:g.46911182_46911183insC (hg19)
chr21:g.45491275dupC (hg38)
chr21:g.45491268_45491269insC (hg38)
PubMed:
PMID:23667181
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45491275dup , CM000683.2:g.45491275dup | GRCh38 |
| NC_000021.8:g.46911189dup , CM000683.1:g.46911189dup | GRCh37 |
| NC_000021.7:g.45735617dup | NCBI36 |
| NG_011903.1:g.91093dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.2658dup | ENSP00000347665.5:p.Gly887ArgfsTer23 | |
| ENST00000651438.1:c.2118dup MANE Select | ENSP00000498485.1:p.Gly707ArgfsTer23 | |
| ENST00000342220.9:c.159dup | ENSP00000339118.5:p.Gly54ArgfsTer23 | |
| ENST00000355480.9:c.2658dup | ENSP00000347665.5:p.Gly887ArgfsTer23 | |
| ENST00000359759.8:c.3363dup | ENSP00000352798.4:p.Gly1122ArgfsTer23 | |
| ENST00000400337.6:c.2118dup | ENSP00000383191.2:p.Gly707ArgfsTer23 | |
| NM_030582.3:c.2658dup | NP_085059.2:p.Gly887ArgfsTer23 | |
| NM_130444.2:c.3363dup | NP_569711.2:p.Gly1122ArgfsTer23 | |
| NM_130445.3:c.2118dup | NP_569712.2:p.Gly707ArgfsTer23 | |
| NM_030582.4:c.2658dup | NP_085059.2:p.Gly887ArgfsTer23 | |
| NM_130444.3:c.3363dup | NP_569711.2:p.Gly1122ArgfsTer23 | |
| NM_130445.4:c.2118dup | NP_569712.2:p.Gly707ArgfsTer23 | |
| NM_001379500.1:c.2118dup MANE Select | NP_001366429.1:p.Gly707ArgfsTer23 |