MyVariant.info:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00045932 (SAS)
Genomes Max Group AF
0.00028298 (SAS)
Exomes Max Group AF
0.00044365 (SAS)
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352079_133352084dup , CM000671.2:g.133352079_133352084dup | GRCh38 |
| NC_000009.10:g.135208755_135208760dup | NCBI36 |
| NG_008477.1:g.9426_9431dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.813_818dup MANE Select | ENSP00000361042.3:p.Leu272_Gln273insHisLeu | |
| ENST00000371974.7:c.813_818dup | ENSP00000361042.3:p.Leu272_Gln273insHisLeu | |
| ENST00000437995.1:n.723_728dup | ||
| ENST00000495952.5:n.803_808dup | ||
| ENST00000615505.4:c.486_491dup | ENSP00000482067.1:p.Leu163_Gln164insHisLeu | |
| NM_001280787.1:c.486_491dup | NP_001267716.1:p.Leu163_Gln164insHisLeu | |
| NM_003172.3:c.813_818dup | NP_003163.1:p.Leu272_Gln273insHisLeu | |
| XM_011518942.1:c.486_491dup | XP_011517244.1:p.Leu163_Gln164insHisLeu | |
| NM_003172.4:c.813_818dup MANE Select | NP_003163.1:p.Leu272_Gln273insHisLeu |