Linked Data
ClinVar Variation Id:
324593
dbSNP Id:
rs559951043
gnomAD v2:
17-6328049-G-GT
gnomAD v3:
17-6424729-G-GT
gnomAD v4:
17-6424729-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6424736dup , CM000679.2:g.6424736dup | GRCh38 |
| NC_000017.10:g.6328056dup , CM000679.1:g.6328056dup | GRCh37 |
| NC_000017.9:g.6268780dup | NCBI36 |
| NG_008474.1:g.15470dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.*730dup MANE Select | ENSP00000370521.3:n.*730dup | |
| ENST00000250087.9:c.*730dup | ENSP00000250087.5:n.*730dup | |
| ENST00000381128.2:c.*1757dup | ENSP00000370520.2:n.*1757dup | |
| ENST00000381129.7:c.*730dup | ENSP00000370521.3:n.*730dup | |
| ENST00000570584.5:c.251+9189dup | ||
| ENST00000574506.5:c.*730dup | ENSP00000458456.1:n.*730dup | |
| NM_001033054.2:c.*730dup | NP_001028226.1:n.*730dup | |
| NM_001033055.2:c.*730dup | NP_001028227.1:n.*730dup | |
| NM_001285399.2:c.*730dup | NP_001272328.1:n.*730dup | |
| NM_001285400.2:c.*730dup | NP_001272329.1:n.*730dup | |
| NM_001285401.2:c.*730dup | NP_001272330.1:n.*730dup | |
| NM_001285402.1:c.*730dup | NP_001272331.1:n.*730dup | |
| NM_014336.4:c.*730dup | NP_055151.3:n.*730dup | |
| NM_001033054.3:c.*730dup | NP_001028226.1:n.*730dup | |
| NM_001033055.3:c.*730dup | NP_001028227.1:n.*730dup | |
| NM_001285399.3:c.*730dup | NP_001272328.1:n.*730dup | |
| NM_001285400.3:c.*730dup | NP_001272329.1:n.*730dup | |
| NM_001285401.3:c.*730dup | NP_001272330.1:n.*730dup | |
| NM_001285402.2:c.*730dup | NP_001272331.1:n.*730dup | |
| NM_014336.5:c.*730dup MANE Select | NP_055151.3:n.*730dup |