gnomAD v2:
gnomAD v4:
Joint Max Group AF
6.9e-7 (NFE)
Exomes Max Group AF
7.3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871329_14871335dup , CM000667.2:g.14871329_14871335dup | GRCh38 |
| NC_000005.9:g.14871438_14871444dup , CM000667.1:g.14871438_14871444dup | GRCh37 |
| NC_000005.8:g.14924438_14924444dup | NCBI36 |
| NG_008273.1:g.5449_5455dup | |
| NG_008273.2:g.5456_5462dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.96+22_96+28dup MANE Select | ENSP00000284268.6:n.96+22_96+28dup | |
| ENST00000284268.6:c.96+22_96+28dup | ENSP00000284268.6:n.96+22_96+28dup | |
| ENST00000505140.1:c.118_124dup | ENSP00000426332.1:p.Arg42ProfsTer29 | |
| ENST00000513115.1:n.121+22_121+28dup | ||
| NM_054027.4:c.96+22_96+28dup | NP_473368.1:n.96+22_96+28dup | |
| XM_011514067.1:c.96+22_96+28dup | XP_011512369.1:n.96+22_96+28dup | |
| NM_054027.5:c.96+22_96+28dup | NP_473368.1:n.96+22_96+28dup | |
| NM_054027.6:c.96+22_96+28dup MANE Select | NP_473368.1:n.96+22_96+28dup |