gnomAD v4:
Joint Max Group AF
7.9e-7 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17386948_17386949insTTTGGG , CM000673.2:g.17386948_17386949insTTTGGG | GRCh38 |
| NC_000011.9:g.17408495_17408496insTTTGGG , CM000673.1:g.17408495_17408496insTTTGGG | GRCh37 |
| NC_000011.8:g.17365071_17365072insTTTGGG | NCBI36 |
| NG_012446.1:g.6711_6712insCCCAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.882_883insCCCAAA | ENSP00000508090.1:p.Lys294_Phe295insProLys | |
| ENST00000682764.1:c.882_883insCCCAAA | ENSP00000506780.1:p.Lys294_Phe295insProLys | |
| ENST00000339994.5:c.1143_1144insCCCAAA MANE Select | ENSP00000345708.4:p.Lys381_Phe382insProLys | |
| ENST00000339994.4:c.1143_1144insCCCAAA | ENSP00000345708.4:p.Lys381_Phe382insProLys | |
| ENST00000528731.1:c.882_883insCCCAAA | ENSP00000434755.1:p.Lys294_Phe295insProLys | |
| NM_000525.3:c.1143_1144insCCCAAA | NP_000516.3:p.Lys381_Phe382insProLys | |
| NM_001166290.1:c.882_883insCCCAAA | NP_001159762.1:p.Lys294_Phe295insProLys | |
| XM_006718226.2:c.882_883insCCCAAA | XP_006718289.1:p.Lys294_Phe295insProLys | |
| XR_930867.1:n.1301_1302insCCCAAA | ||
| XM_006718226.3:c.882_883insCCCAAA | XP_006718289.1:p.Lys294_Phe295insProLys | |
| XM_017017680.1:c.882_883insCCCAAA | XP_016873169.1:p.Lys294_Phe295insProLys | |
| NM_001166290.2:c.882_883insCCCAAA | NP_001159762.1:p.Lys294_Phe295insProLys | |
| NM_001377296.1:c.882_883insCCCAAA | NP_001364225.1:p.Lys294_Phe295insProLys | |
| NM_001377297.1:c.882_883insCCCAAA | NP_001364226.1:p.Lys294_Phe295insProLys | |
| NM_000525.4:c.1143_1144insCCCAAA MANE Select | NP_000516.3:p.Lys381_Phe382insProLys |