ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129514485_129514488dup , CM000668.2:g.129514485_129514488dup | GRCh38 |
| NC_000006.11:g.129835630_129835633dup , CM000668.1:g.129835630_129835633dup | GRCh37 |
| NC_000006.10:g.129877323_129877326dup | NCBI36 |
| NG_008678.1:g.636345_636348dup , LRG_409:g.636345_636348dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.1166_1169dup | ENSP00000510626.1:p.His390GlnfsTer5 | |
| ENST00000498257.6:c.1166_1169dup | ENSP00000510533.1:p.His390GlnfsTer5 | |
| ENST00000617695.5:c.9089_9092dup | ENSP00000481744.2:p.His3031GlnfsTer5 | |
| ENST00000618192.5:c.9365_9368dup | ENSP00000480802.2:p.His3123GlnfsTer5 | |
| ENST00000688198.1:n.2079_2082dup | ||
| ENST00000688799.1:c.1166_1169dup | ENSP00000508458.1:p.His390GlnfsTer5 | |
| ENST00000690858.1:n.3974_3977dup | ||
| ENST00000693461.1:n.1438_1441dup | ||
| ENST00000421865.3:c.9101_9104dup MANE Select | ENSP00000400365.2:p.His3035GlnfsTer5 | |
| ENST00000421865.2:c.9101_9104dup | ENSP00000400365.2:p.His3035GlnfsTer5 | |
| ENST00000617695.4:c.9089_9092dup | ENSP00000481744.1:p.His3031GlnfsTer5 | |
| ENST00000618192.4:c.9098_9101dup | ENSP00000480802.1:p.His3034GlnfsTer5 | |
| NM_000426.3:c.9101_9104dup , LRG_409t1:c.9101_9104dup | NP_000417.2:p.His3035GlnfsTer5 | |
| NM_001079823.1:c.9089_9092dup | NP_001073291.1:p.His3031GlnfsTer5 | |
| XM_005266981.2:c.9365_9368dup | XP_005267038.1:p.His3123GlnfsTer5 | |
| XM_005266982.2:c.9353_9356dup | XP_005267039.1:p.His3119GlnfsTer5 | |
| XM_011535820.1:c.9359_9362dup | XP_011534122.1:p.His3121GlnfsTer5 | |
| XR_942984.1:n.1460+7991_1460+7994dup | ||
| XR_942985.1:n.1324+7991_1324+7994dup | ||
| XM_005266981.3:c.9365_9368dup | XP_005267038.1:p.His3123GlnfsTer5 | |
| XM_005266982.3:c.9353_9356dup | XP_005267039.1:p.His3119GlnfsTer5 | |
| XM_011535820.2:c.9359_9362dup | XP_011534122.1:p.His3121GlnfsTer5 | |
| XM_017010851.2:c.9371_9374dup | XP_016866340.1:p.His3125GlnfsTer5 | |
| XM_017010852.1:c.7496_7499dup | XP_016866341.1:p.His2500GlnfsTer5 | |
| XR_001743859.1:n.3900+7991_3900+7994dup | ||
| XR_001743860.1:n.1179+7991_1179+7994dup | ||
| XR_001743861.1:n.1346+7991_1346+7994dup | ||
| XR_001743863.1:n.883-11695_883-11692dup | ||
| XR_002956395.1:n.9131+7991_9131+7994dup | ||
| XR_002956396.1:n.3126+7991_3126+7994dup | ||
| NM_000426.4:c.9101_9104dup MANE Select | NP_000417.3:p.His3035GlnfsTer5 | |
| NM_001079823.2:c.9089_9092dup | NP_001073291.2:p.His3031GlnfsTer5 |