MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00148268 (SAS)
Genomes Max Group AF
0.00144085 (SAS)
Exomes Max Group AF
0.00143333 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027900_17027902dup , CM000663.2:g.17027900_17027902dup | GRCh38 |
| NC_000001.10:g.17354395_17354397dup , CM000663.1:g.17354395_17354397dup | GRCh37 |
| NC_000001.9:g.17226982_17226984dup | NCBI36 |
| NG_012340.1:g.31290_31292dup , LRG_316:g.31290_31292dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.253-16_253-14dup | ENSP00000481376.2:n.253-16_253-14dup | |
| ENST00000491274.6:c.382-16_382-14dup | ENSP00000480482.2:n.382-16_382-14dup | |
| ENST00000375499.8:c.424-16_424-14dup MANE Select | ENSP00000364649.3:n.424-16_424-14dup | |
| ENST00000375499.7:c.424-16_424-14dup | ENSP00000364649.3:n.424-16_424-14dup | |
| ENST00000463045.2:c.253-16_253-14dup | ENSP00000481376.1:n.253-16_253-14dup | |
| ENST00000475506.1:n.341-16_341-14dup | ||
| ENST00000485515.5:n.358-16_358-14dup | ||
| ENST00000491274.5:c.382-16_382-14dup | ENSP00000480482.1:n.382-16_382-14dup | |
| NM_003000.2:c.424-16_424-14dup , LRG_316t1:c.424-16_424-14dup | NP_002991.2:n.424-16_424-14dup | |
| NM_003000.3:c.424-16_424-14dup MANE Select | NP_002991.2:n.424-16_424-14dup |