Linked Data
ClinVar Variation Id:
1534505
ClinVar RCV Id:
RCV002076784
dbSNP Id:
rs2062893900
gnomAD v3:
3-58428620-C-CAGGT
gnomAD v4:
3-58428620-C-CAGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58428622_58428625dup , CM000665.2:g.58428622_58428625dup | GRCh38 |
| NC_000003.11:g.58414349_58414352dup , CM000665.1:g.58414349_58414352dup | GRCh37 |
| NC_000003.10:g.58389389_58389392dup | NCBI36 |
| NG_016860.1:g.10229_10232dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.793-10_793-7dup MANE Select | ENSP00000307241.6:n.793-10_793-7dup | |
| ENST00000302746.10:c.793-10_793-7dup | ENSP00000307241.6:n.793-10_793-7dup | |
| ENST00000383714.8:c.739-10_739-7dup | ENSP00000373220.4:n.739-10_739-7dup | |
| ENST00000461692.5:n.906-10_906-7dup | ||
| ENST00000469364.5:c.*179-10_*179-7dup | ENSP00000419580.1:n.*179-10_*179-7dup | |
| ENST00000474765.1:c.739-10_739-7dup | ENSP00000418448.1:n.739-10_739-7dup | |
| ENST00000479945.1:n.3526-10_3526-7dup | ||
| ENST00000485460.5:c.739-10_739-7dup | ENSP00000417267.1:n.739-10_739-7dup | |
| NM_000925.3:c.793-10_793-7dup | NP_000916.2:n.793-10_793-7dup | |
| NM_001173468.1:c.739-10_739-7dup | NP_001166939.1:n.739-10_739-7dup | |
| NM_001315536.1:c.739-10_739-7dup | NP_001302465.1:n.739-10_739-7dup | |
| NR_033384.1:n.906-10_906-7dup | ||
| NM_000925.4:c.793-10_793-7dup MANE Select | NP_000916.2:n.793-10_793-7dup | |
| NM_001173468.2:c.739-10_739-7dup | NP_001166939.1:n.739-10_739-7dup | |
| NM_001315536.2:c.739-10_739-7dup | NP_001302465.1:n.739-10_739-7dup | |
| NR_033384.2:n.899-10_899-7dup |