MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02098784 (NFE)
Genomes Max Group AF
0.01884253 (NFE)
Exomes Max Group AF
0.02108526 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41238089_41238096dup , CM000684.2:g.41238089_41238096dup | GRCh38 |
| NC_000022.10:g.41634093_41634100dup , CM000684.1:g.41634093_41634100dup | GRCh37 |
| NC_000022.9:g.39964039_39964046dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216241.14:c.981_988dup MANE Select | ENSP00000216241.9:p.Val330GlyfsTer? | |
| ENST00000216241.13:c.981_988dup | ENSP00000216241.9:p.Val330GlyfsTer? | |
| ENST00000417999.5:c.974_981dup | ||
| ENST00000455425.1:c.79-607_79-600dup | ENSP00000412359.1:n.79-607_79-600dup | |
| NM_138481.1:c.981_988dup | NP_612490.1:p.Val330GlyfsTer? | |
| XM_005261370.2:c.981_988dup | XP_005261427.1:p.Val330GlyfsTer? | |
| XM_011529932.1:c.1185_1192dup | XP_011528234.1:p.Val398GlyfsTer? | |
| XM_011529933.1:c.1185_1192dup | XP_011528235.1:p.Val398GlyfsTer? | |
| XM_011529934.1:c.1185_1192dup | XP_011528236.1:p.Val398GlyfsTer? | |
| XM_011529933.2:c.1185_1192dup | XP_011528235.1:p.Val398GlyfsTer? | |
| NM_138481.2:c.981_988dup MANE Select | NP_612490.1:p.Val330GlyfsTer? |