MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002238 (NFE)
Exomes Max Group AF
0.0000229 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026022_119026033dup , CM000673.2:g.119026022_119026033dup | GRCh38 |
| NC_000011.9:g.118896732_118896743dup , CM000673.1:g.118896732_118896743dup | GRCh37 |
| NC_000011.8:g.118401942_118401953dup | NCBI36 |
| NG_013331.1:g.9878_9889dup , LRG_187:g.9878_9889dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1067_1078dup | ||
| ENST00000697845.1:n.1847_1858dup | ||
| ENST00000697846.1:n.1067_1078dup | ||
| ENST00000697847.1:n.1202-271_1202-260dup | ||
| ENST00000697848.1:n.1153_1164dup | ||
| ENST00000697849.1:n.2962_2973dup | ||
| ENST00000697850.1:n.1153_1164dup | ||
| ENST00000697851.1:n.2761_2772dup | ||
| ENST00000638186.1:n.1227_1238dup | ||
| ENST00000638360.1:n.1059_1070dup | ||
| ENST00000638925.1:n.1192_1203dup | ||
| ENST00000650539.1:n.1329_1340dup | ||
| ENST00000330775.9:c.923_934dup | ENSP00000476242.2:p.Met311_Thr312insMetAlaGlyMet | |
| ENST00000357590.9:c.923_934dup | ENSP00000476176.2:p.Met311_Thr312insMetAlaGlyMet | |
| ENST00000524428.5:n.1159_1170dup | ||
| ENST00000525039.5:n.1347_1358dup | ||
| ENST00000525102.5:n.1681_1692dup | ||
| ENST00000525372.5:n.1021_1032dup | ||
| ENST00000526275.5:n.1705_1716dup | ||
| ENST00000527992.5:n.1151_1162dup | ||
| ENST00000529510.5:n.611_622dup | ||
| ENST00000530407.5:n.1073_1084dup | ||
| ENST00000532085.1:n.4304_4315dup | ||
| ENST00000538950.5:c.704_715dup | ENSP00000475991.2:p.Met238_Thr239insMetAlaGlyMet | |
| ENST00000545985.5:c.923_934dup | ENSP00000475241.2:p.Met311_Thr312insMetAlaGlyMet | |
| NM_001164277.1:c.923_934dup , LRG_187t1:c.923_934dup | NP_001157749.1:p.Met311_Thr312insMetAlaGlyMet | |
| NM_001164278.1:c.923_934dup | NP_001157750.1:p.Met311_Thr312insMetAlaGlyMet | |
| NM_001164279.1:c.704_715dup | NP_001157751.1:p.Met238_Thr239insMetAlaGlyMet | |
| NM_001164280.1:c.923_934dup | NP_001157752.1:p.Met311_Thr312insMetAlaGlyMet | |
| NM_001467.5:c.923_934dup | NP_001458.1:p.Met311_Thr312insMetAlaGlyMet | |
| NM_001164278.2:c.923_934dup | NP_001157750.1:p.Met311_Thr312insMetAlaGlyMet | |
| NM_001164279.2:c.704_715dup | NP_001157751.1:p.Met238_Thr239insMetAlaGlyMet | |
| NM_001164280.2:c.923_934dup | NP_001157752.1:p.Met311_Thr312insMetAlaGlyMet | |
| NM_001467.6:c.923_934dup | NP_001458.1:p.Met311_Thr312insMetAlaGlyMet | |
| NM_001164277.2:c.923_934dup MANE Select | NP_001157749.1:p.Met311_Thr312insMetAlaGlyMet |