MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55773157 (EAS)
Genomes Max Group AF
0.55595523 (EAS)
Exomes Max Group AF
0.55612309 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203217823_203217846dup , CM000663.2:g.203217823_203217846dup | GRCh38 |
| NC_000001.10:g.203186951_203186974dup , CM000663.1:g.203186951_203186974dup | GRCh37 |
| NC_000001.9:g.201453574_201453597dup | NCBI36 |
| NG_012867.1:g.16887_16910dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367229.6:c.1049_1072dup MANE Select | ENSP00000356198.1:p.Trp358Ter | |
| ENST00000255427.7:c.992_1015dup | ENSP00000255427.3:p.Trp339Ter | |
| ENST00000367229.5:c.1049_1072dup | ENSP00000356198.1:p.Trp358Ter | |
| ENST00000479483.1:n.176_199dup | ||
| ENST00000484834.5:n.5281_5304dup | ||
| ENST00000491855.5:c.1049_1072dup | ENSP00000423778.1:p.Trp358Ter | |
| ENST00000503786.1:c.*120_*143dup | ENSP00000421617.1:n.*120_*143dup | |
| NM_001256125.1:c.992_1015dup | NP_001243054.2:p.Trp339Ter | |
| NM_001270509.1:c.982-68_982-45dup | NP_001257438.1:n.982-68_982-45dup | |
| NM_003465.2:c.1049_1072dup | NP_003456.1:p.Trp358Ter | |
| NR_045784.1:n.1302_1325dup | ||
| NR_045785.1:n.1145_1168dup | ||
| XM_011509109.1:c.1094_1117dup | XP_011507411.1:p.Trp373Ter | |
| XM_011509110.1:c.1094_1117dup | XP_011507412.1:p.Trp373Ter | |
| XR_921732.1:n.1251_1274dup | ||
| NM_003465.3:c.1049_1072dup MANE Select | NP_003456.1:p.Trp358Ter | |
| NM_001256125.2:c.992_1015dup | NP_001243054.2:p.Trp339Ter | |
| NR_045784.2:n.1243_1266dup | ||
| NR_045785.2:n.1086_1109dup |