Linked Data
ClinVar Variation Id:
279674
dbSNP Id:
rs886041124
gnomAD v4:
21-44286628-C-CCAGG
MyVariant Identifiers:
chr21:g.45706512_45706515dupCAGG (hg19)
chr21:g.44286629_44286632dupCAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286629_44286632dup , CM000683.2:g.44286629_44286632dup | GRCh38 |
| NC_000021.8:g.45706512_45706515dup , CM000683.1:g.45706512_45706515dup | GRCh37 |
| NC_000021.7:g.44530940_44530943dup | NCBI36 |
| NG_009556.1:g.5750_5753dup , LRG_18:g.5750_5753dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.205_208dup MANE Select | ENSP00000291582.5:p.Asp70AlafsTer? | |
| ENST00000291582.5:c.205_208dup | ENSP00000291582.5:p.Asp70AlafsTer? | |
| ENST00000527919.5:n.366_369dup | ||
| ENST00000530812.5:n.374_377dup | ||
| NM_000383.3:c.205_208dup | NP_000374.1:p.Asp70AlafsTer? | |
| XM_011529551.1:c.205_208dup | XP_011527853.1:p.Asp70AlafsTer? | |
| NM_000383.4:c.205_208dup MANE Select | NP_000374.1:p.Asp70AlafsTer? |