MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00040821 (EAS)
Genomes Max Group AF
0.0000685 (EAS)
Exomes Max Group AF
0.00041925 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107441_35107442dup , CM000679.2:g.35107441_35107442dup | GRCh38 |
| NC_000017.10:g.33434460_33434461dup , CM000679.1:g.33434460_33434461dup | GRCh37 |
| NC_000017.9:g.30458573_30458574dup | NCBI36 |
| NG_031858.1:g.17429_17430dup , LRG_516:g.17429_17430dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.270_271dup | ENSP00000468273.3:p.Lys91IlefsTer13 | |
| ENST00000587405.6:c.-88_-87dup | ENSP00000466478.2:n.-88_-87dup | |
| ENST00000590016.6:c.330_331dup | ENSP00000466399.1:p.Lys111IlefsTer13 | |
| ENST00000590631.2:n.437-960_437-959dup | ||
| ENST00000592577.6:c.-88_-87dup | ENSP00000466839.2:n.-88_-87dup | |
| ENST00000345365.11:c.270_271dup MANE Select | ENSP00000338790.6:p.Lys91IlefsTer13 | |
| ENST00000335858.11:c.145-960_145-959dup | ENSP00000338408.6:n.145-960_145-959dup | |
| ENST00000345365.10:c.270_271dup | ENSP00000338790.6:p.Lys91IlefsTer13 | |
| ENST00000394589.8:c.270_271dup | ENSP00000378090.4:p.Lys91IlefsTer13 | |
| ENST00000415064.6:n.420_421dup | ||
| ENST00000460118.6:c.-201_-200dup | ENSP00000464356.2:n.-201_-200dup | |
| ENST00000585343.5:c.352_353dup | ||
| ENST00000585947.5:n.166_167dup | ||
| ENST00000585982.5:n.425_426dup | ||
| ENST00000586044.5:c.*1_*2dup | ENSP00000465584.1:n.*1_*2dup | |
| ENST00000586186.2:c.173_174dup | ||
| ENST00000586210.5:c.264-319_264-318dup | ENSP00000465612.1:n.264-319_264-318dup | |
| ENST00000587405.5:c.-88_-87dup | ENSP00000466478.1:n.-88_-87dup | |
| ENST00000587977.5:c.*86-319_*86-318dup | ENSP00000466587.1:n.*86-319_*86-318dup | |
| ENST00000587982.5:n.198_199dup | ||
| ENST00000588372.5:c.-88_-87dup | ENSP00000468764.1:n.-88_-87dup | |
| ENST00000588594.5:c.*1_*2dup | ENSP00000465366.1:n.*1_*2dup | |
| ENST00000589506.1:n.362_363dup | ||
| ENST00000590016.5:c.330_331dup | ENSP00000466399.1:p.Lys111IlefsTer13 | |
| ENST00000590631.1:c.-51-960_-51-959dup | ENSP00000465033.1:n.-51-960_-51-959dup | |
| ENST00000591723.5:c.-127_-126dup | ENSP00000467986.1:n.-127_-126dup | |
| ENST00000592181.1:c.-88_-87dup | ENSP00000464799.1:n.-88_-87dup | |
| ENST00000592430.5:n.239_240dup | ||
| ENST00000592577.5:c.276_277dup | ENSP00000466839.1:p.Lys93IlefsTer13 | |
| ENST00000592850.5:c.346-960_346-959dup | ||
| ENST00000592928.2:n.167-960_167-959dup | ||
| ENST00000593039.5:c.4-960_4-959dup | ENSP00000466834.1:n.4-960_4-959dup | |
| NM_001142571.1:c.330_331dup | NP_001136043.1:p.Lys111IlefsTer13 | |
| NM_002878.3:c.270_271dup , LRG_516t1:c.270_271dup | NP_002869.3:p.Lys91IlefsTer13 | |
| NM_133629.2:c.145-960_145-959dup | NP_598332.1:n.145-960_145-959dup | |
| NR_037711.1:n.407_408dup | ||
| NR_037712.1:n.407_408dup | ||
| NR_037714.1:n.233-960_233-959dup | ||
| NM_001142571.2:c.330_331dup | NP_001136043.1:p.Lys111IlefsTer13 | |
| NM_133629.3:c.145-960_145-959dup | NP_598332.1:n.145-960_145-959dup | |
| NR_037711.2:n.296_297dup | ||
| NR_037712.2:n.296_297dup | ||
| NM_002878.4:c.270_271dup MANE Select | NP_002869.3:p.Lys91IlefsTer13 |