Linked Data
ClinVar Variation Id:
324082
dbSNP Id:
rs886053152
gnomAD v3:
17-50185243-G-GT
gnomAD v4:
17-50185243-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185245dup , CM000679.2:g.50185245dup | GRCh38 |
| NC_000017.10:g.48262606dup , CM000679.1:g.48262606dup | GRCh37 |
| NC_000017.9:g.45617605dup | NCBI36 |
| NG_007400.1:g.21396dup , LRG_1:g.21396dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.*258dup MANE Select | ENSP00000225964.6:n.*258dup | |
| ENST00000225964.9:c.*258dup | ENSP00000225964.5:n.*258dup | |
| NM_000088.3:c.*258dup , LRG_1t1:c.*258dup | NP_000079.2:n.*258dup | |
| XM_005257058.3:c.*258dup | XP_005257115.2:n.*258dup | |
| XM_005257059.3:c.*258dup | XP_005257116.2:n.*258dup | |
| XM_011524341.1:c.*258dup | XP_011522643.1:n.*258dup | |
| XM_005257058.4:c.*258dup | XP_005257115.2:n.*258dup | |
| XM_005257059.4:c.*258dup | XP_005257116.2:n.*258dup | |
| NM_000088.4:c.*258dup MANE Select | NP_000079.2:n.*258dup |