MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006889 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00007047 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070926_38070952dup , CM000664.2:g.38070926_38070952dup | GRCh38 |
| NC_000002.11:g.38298069_38298095dup , CM000664.1:g.38298069_38298095dup | GRCh37 |
| NC_000002.10:g.38151573_38151599dup | NCBI36 |
| NG_008386.2:g.10151_10177dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1403_1429dup | ENSP00000478839.2:p.Ser476_Lys477insArgArgCysIleGlyGluGluLeuS... | |
| ENST00000610745.5:c.1403_1429dup MANE Select | ENSP00000478561.1:p.Ser476_Lys477insArgArgCysIleGlyGluGluLeuS... | |
| ENST00000494864.1:c.290_316dup | ENSP00000479876.1:p.Ser105_Lys106insArgArgCysIleGlyGluGluLeuS... | |
| ENST00000610745.4:c.1403_1429dup | ENSP00000478561.1:p.Ser476_Lys477insArgArgCysIleGlyGluGluLeuS... | |
| ENST00000614273.1:c.1403_1429dup | ENSP00000483678.1:p.Ser476_Lys477insArgArgCysIleGlyGluGluLeuS... | |
| NM_000104.3:c.1403_1429dup | NP_000095.2:p.Ser476_Lys477insArgArgCysIleGlyGluGluLeuSer | |
| NM_000104.4:c.1403_1429dup MANE Select | NP_000095.2:p.Ser476_Lys477insArgArgCysIleGlyGluGluLeuSer |