Linked Data
ClinVar Variation Id:
370846
ClinVar RCV Id:
RCV000409364
dbSNP Id:
rs1057516811
gnomAD v4:
21-44296446-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44296447dup , CM000683.2:g.44296447dup | GRCh38 |
| NC_000021.8:g.45716330dup , CM000683.1:g.45716330dup | GRCh37 |
| NC_000021.7:g.44540758dup | NCBI36 |
| NG_009556.1:g.15568dup , LRG_18:g.15568dup | |
| NG_034033.1:g.1414dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.1566+2dup MANE Select | ENSP00000291582.5:n.1566+2dup | |
| ENST00000291582.5:c.1566+2dup | ENSP00000291582.5:n.1566+2dup | |
| ENST00000337909.5:n.1027+2dup | ||
| ENST00000397994.8:n.945+2dup | ||
| ENST00000527919.5:n.2325+2dup | ||
| ENST00000530812.5:n.3313+2dup | ||
| NM_000383.3:c.1566+2dup | NP_000374.1:n.1566+2dup | |
| XM_011529551.1:c.1563+2dup | XP_011527853.1:n.1563+2dup | |
| NM_000383.4:c.1566+2dup MANE Select | NP_000374.1:n.1566+2dup |