ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2122855 (MID)
Genomes Max Group AF
0.15739391 (NFE)
Exomes Max Group AF
0.21097634 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431915dup , CM000663.2:g.229431915dup | GRCh38 |
| NC_000001.10:g.229567662dup , CM000663.1:g.229567662dup | GRCh37 |
| NC_000001.9:g.227634285dup | NCBI36 |
| NG_006672.1:g.7183dup , LRG_429:g.7183dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.809-12dup | ENSP00000355644.4:n.809-12dup | |
| ENST00000684723.1:c.674-12dup | ENSP00000508084.1:n.674-12dup | |
| ENST00000366683.3:c.480-52dup | ENSP00000355644.3:n.480-52dup | |
| ENST00000366684.7:c.809-12dup MANE Select | ENSP00000355645.3:n.809-12dup | |
| NM_001100.3:c.809-12dup , LRG_429t1:c.809-12dup | NP_001091.1:n.809-12dup | |
| NM_001100.4:c.809-12dup MANE Select | NP_001091.1:n.809-12dup |