Linked Data
ClinVar Variation Id:
550476
ClinVar RCV Id:
RCV000665231
dbSNP Id:
rs769305771
gnomAD v3:
21-44292306-AC-A
gnomAD v4:
21-44292306-AC-A
MyVariant Identifiers:
chr21:g.45712190del (hg19)
chr21:g.44292308del (hg38)
chr21:g.44292307del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292308del , CM000683.2:g.44292308del | GRCh38 |
| NC_000021.8:g.45712191del , CM000683.1:g.45712191del | GRCh37 |
| NC_000021.7:g.44536619del | NCBI36 |
| NG_009556.1:g.11429del , LRG_18:g.11429del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1002del MANE Select | ENSP00000291582.5:p.Trp335GlyfsTer? | |
| ENST00000291582.5:c.1002del | ENSP00000291582.5:p.Trp335GlyfsTer? | |
| ENST00000337909.5:n.463del | ||
| ENST00000397994.8:n.463del | ||
| ENST00000527919.5:n.1732del | ||
| ENST00000530812.5:n.2749del | ||
| NM_000383.3:c.1002del | NP_000374.1:p.Trp335GlyfsTer? | |
| XM_011529551.1:c.999del | XP_011527853.1:p.Trp334GlyfsTer? | |
| NM_000383.4:c.1002del MANE Select | NP_000374.1:p.Trp335GlyfsTer? |