ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.75029029_75029030del , CM000672.2:g.75029029_75029030del | GRCh38 |
| NC_000010.10:g.76788787_76788788del , CM000672.1:g.76788787_76788788del | GRCh37 |
| NC_000010.9:g.76458793_76458794del | NCBI36 |
| NG_032048.1:g.207617_207618del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287239.10:c.4205_4206del (KAT6B) MANE Select | ENSP00000287239.4:p.Ser1402CysfsTer5 | |
| ENST00000372711.2:c.3656_3657del (KAT6B) | ENSP00000361796.1:p.Ser1219CysfsTer5 | |
| ENST00000372714.6:c.3329_3330del (KAT6B) | ENSP00000361799.1:p.Ser1110CysfsTer5 | |
| ENST00000372724.6:c.3656_3657del (KAT6B) | ENSP00000361809.2:p.Ser1219CysfsTer5 | |
| ENST00000372725.6:c.3329_3330del (KAT6B) | ENSP00000361810.1:p.Ser1110CysfsTer5 | |
| ENST00000648725.1:c.4205_4206del (KAT6B) | ENSP00000497841.1:p.Ser1402CysfsTer5 | |
| ENST00000648892.1:c.3329_3330del (KAT6B) | ENSP00000497048.1:p.Ser1110CysfsTer5 | |
| ENST00000649006.1:c.3329_3330del (KAT6B) | ENSP00000498139.1:p.Ser1110CysfsTer5 | |
| ENST00000649463.1:c.4205_4206del (KAT6B) | ENSP00000497166.1:p.Ser1402CysfsTer5 | |
| ENST00000287239.8:c.4205_4206del (KAT6B) | ENSP00000287239.4:p.Ser1402CysfsTer5 | |
| ENST00000372711.1:c.3656_3657del (KAT6B) | ENSP00000361796.1:p.Ser1219CysfsTer5 | |
| ENST00000372714.5:c.3329_3330del (KAT6B) | ENSP00000361799.1:p.Ser1110CysfsTer5 | |
| ENST00000372724.5:c.3329_3330del (KAT6B) | ENSP00000361809.1:p.Ser1110CysfsTer5 | |
| ENST00000372725.5:c.3329_3330del (KAT6B) | ENSP00000361810.1:p.Ser1110CysfsTer5 | |
| NM_001256468.1:c.3656_3657del (KAT6B) | NP_001243397.1:p.Ser1219CysfsTer5 | |
| NM_001256469.1:c.3329_3330del (KAT6B) | NP_001243398.1:p.Ser1110CysfsTer5 | |
| NM_012330.3:c.4205_4206del (KAT6B) | NP_036462.2:p.Ser1402CysfsTer5 | |
| XM_005269664.2:c.4205_4206del (KAT6B) | XP_005269721.1:p.Ser1402CysfsTer5 | |
| XR_946064.1:n.577-2434_577-2433del | ||
| XM_011539747.2:c.*3622-2434_*3622-2433del (DUSP29) | XP_011538049.1:n.*3622-2434_*3622-2433del | |
| XM_017016000.2:c.4205_4206del (KAT6B) | XP_016871489.1:p.Ser1402CysfsTer5 | |
| XM_017016002.1:c.4205_4206del (KAT6B) | XP_016871491.1:p.Ser1402CysfsTer5 | |
| XM_017016003.1:c.4205_4206del (KAT6B) | XP_016871492.1:p.Ser1402CysfsTer5 | |
| XM_017016004.2:c.4043_4044del (KAT6B) | XP_016871493.1:p.Ser1348CysfsTer5 | |
| XM_017016005.2:c.3656_3657del (KAT6B) | XP_016871494.1:p.Ser1219CysfsTer5 | |
| XM_017016006.2:c.3329_3330del (KAT6B) | XP_016871495.1:p.Ser1110CysfsTer5 | |
| XM_017016008.2:c.3329_3330del (KAT6B) | XP_016871497.1:p.Ser1110CysfsTer5 | |
| XM_017016009.1:c.3167_3168del (KAT6B) | XP_016871498.1:p.Ser1056CysfsTer5 | |
| NM_012330.4:c.4205_4206del (KAT6B) MANE Select | NP_036462.2:p.Ser1402CysfsTer5 | |
| NM_001370132.1:c.3167_3168del (KAT6B) | NP_001357061.1:p.Ser1056CysfsTer5 | |
| NM_001370133.1:c.2516_2517del (KAT6B) | NP_001357062.1:p.Ser839CysfsTer5 | |
| NM_001370134.1:c.2120_2121del (KAT6B) | NP_001357063.1:p.Ser707CysfsTer5 | |
| NM_001370135.1:c.1862_1863del (KAT6B) | NP_001357064.1:p.Ser621CysfsTer5 | |
| NM_001370136.1:c.4205_4206del (KAT6B) | NP_001357065.1:p.Ser1402CysfsTer5 | |
| NM_001370137.1:c.4205_4206del (KAT6B) | NP_001357066.1:p.Ser1402CysfsTer5 | |
| NM_001370138.1:c.3656_3657del (KAT6B) | NP_001357067.1:p.Ser1219CysfsTer5 | |
| NM_001370139.1:c.3329_3330del (KAT6B) | NP_001357068.1:p.Ser1110CysfsTer5 | |
| NM_001370140.1:c.3329_3330del (KAT6B) | NP_001357069.1:p.Ser1110CysfsTer5 | |
| NM_001370141.1:c.3329_3330del (KAT6B) | NP_001357070.1:p.Ser1110CysfsTer5 | |
| NM_001370142.1:c.3329_3330del (KAT6B) | NP_001357071.1:p.Ser1110CysfsTer5 | |
| NM_001370143.1:c.3140_3141del (KAT6B) | NP_001357072.1:p.Ser1047CysfsTer5 | |
| NM_001370144.1:c.3140_3141del (KAT6B) | NP_001357073.1:p.Ser1047CysfsTer5 | |
| NM_001256468.2:c.3656_3657del (KAT6B) | NP_001243397.1:p.Ser1219CysfsTer5 | |
| NM_001256469.2:c.3329_3330del (KAT6B) | NP_001243398.1:p.Ser1110CysfsTer5 |