Linked Data
ClinVar Variation Id:
296823
ClinVar RCV Id:
RCV000297284
dbSNP Id:
rs557214506
gnomAD v2:
1-24122110-T-TTTA
gnomAD v3:
1-23795620-T-TTTA
gnomAD v4:
1-23795620-T-TTTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23795623_23795625dup , CM000663.2:g.23795623_23795625dup | GRCh38 |
| NC_000001.10:g.24122113_24122115dup , CM000663.1:g.24122113_24122115dup | GRCh37 |
| NC_000001.9:g.23994700_23994702dup | NCBI36 |
| NG_007068.1:g.10182_10184dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.*326_*328dup MANE Select | ENSP00000483375.1:n.*326_*328dup | |
| ENST00000374497.7:c.*326_*328dup | ENSP00000363621.3:n.*326_*328dup | |
| ENST00000456977.5:c.653_655dup | ENSP00000397045.1:n.653_655dup | |
| ENST00000481736.5:n.1777_1779dup | ||
| ENST00000617979.4:c.*326_*328dup | ENSP00000483375.1:n.*326_*328dup | |
| NM_000403.3:c.*326_*328dup | NP_000394.2:n.*326_*328dup | |
| NM_001008216.1:c.*326_*328dup | NP_001008217.1:n.*326_*328dup | |
| NM_001127621.1:c.*326_*328dup | NP_001121093.1:n.*326_*328dup | |
| NM_001008216.2:c.*326_*328dup MANE Select | NP_001008217.1:n.*326_*328dup | |
| NM_000403.4:c.*326_*328dup | NP_000394.2:n.*326_*328dup | |
| NM_001127621.2:c.*326_*328dup | NP_001121093.1:n.*326_*328dup |