Linked Data
ClinVar Variation Id:
216946
ClinVar RCV Id:
RCV000195677
dbSNP Id:
rs863224883
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.75028786_75028787del , CM000672.2:g.75028786_75028787del | GRCh38 |
| NC_000010.10:g.76788544_76788545del , CM000672.1:g.76788544_76788545del | GRCh37 |
| NC_000010.9:g.76458550_76458551del | NCBI36 |
| NG_032048.1:g.207374_207375del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287239.10:c.3962_3963del (KAT6B) MANE Select | ENSP00000287239.4:p.Gln1321ArgfsTer20 | |
| ENST00000372711.2:c.3413_3414del (KAT6B) | ENSP00000361796.1:p.Gln1138ArgfsTer20 | |
| ENST00000372714.6:c.3086_3087del (KAT6B) | ENSP00000361799.1:p.Gln1029ArgfsTer20 | |
| ENST00000372724.6:c.3413_3414del (KAT6B) | ENSP00000361809.2:p.Gln1138ArgfsTer20 | |
| ENST00000372725.6:c.3086_3087del (KAT6B) | ENSP00000361810.1:p.Gln1029ArgfsTer20 | |
| ENST00000648048.1:c.3962_3963del (KAT6B) | ENSP00000497325.1:p.Gln1321ArgfsTer20 | |
| ENST00000648370.1:c.3413_3414del (KAT6B) | ENSP00000497804.1:p.Gln1138ArgfsTer20 | |
| ENST00000648725.1:c.3962_3963del (KAT6B) | ENSP00000497841.1:p.Gln1321ArgfsTer20 | |
| ENST00000648892.1:c.3086_3087del (KAT6B) | ENSP00000497048.1:p.Gln1029ArgfsTer20 | |
| ENST00000649006.1:c.3086_3087del (KAT6B) | ENSP00000498139.1:p.Gln1029ArgfsTer20 | |
| ENST00000649463.1:c.3962_3963del (KAT6B) | ENSP00000497166.1:p.Gln1321ArgfsTer20 | |
| ENST00000650232.1:c.2897_2898del (KAT6B) | ENSP00000497570.1:p.Gln966ArgfsTer20 | |
| ENST00000287239.8:c.3962_3963del (KAT6B) | ENSP00000287239.4:p.Gln1321ArgfsTer20 | |
| ENST00000372711.1:c.3413_3414del (KAT6B) | ENSP00000361796.1:p.Gln1138ArgfsTer20 | |
| ENST00000372714.5:c.3086_3087del (KAT6B) | ENSP00000361799.1:p.Gln1029ArgfsTer20 | |
| ENST00000372724.5:c.3086_3087del (KAT6B) | ENSP00000361809.1:p.Gln1029ArgfsTer20 | |
| ENST00000372725.5:c.3086_3087del (KAT6B) | ENSP00000361810.1:p.Gln1029ArgfsTer20 | |
| NM_001256468.1:c.3413_3414del (KAT6B) | NP_001243397.1:p.Gln1138ArgfsTer20 | |
| NM_001256469.1:c.3086_3087del (KAT6B) | NP_001243398.1:p.Gln1029ArgfsTer20 | |
| NM_012330.3:c.3962_3963del (KAT6B) | NP_036462.2:p.Gln1321ArgfsTer20 | |
| XM_005269664.2:c.3962_3963del (KAT6B) | XP_005269721.1:p.Gln1321ArgfsTer20 | |
| XR_946064.1:n.577-2193_577-2192del | ||
| XM_011539747.2:c.*3622-2193_*3622-2192del (DUSP29) | XP_011538049.1:n.*3622-2193_*3622-2192del... | |
| XM_017016000.2:c.3962_3963del (KAT6B) | XP_016871489.1:p.Gln1321ArgfsTer20 | |
| XM_017016002.1:c.3962_3963del (KAT6B) | XP_016871491.1:p.Gln1321ArgfsTer20 | |
| XM_017016003.1:c.3962_3963del (KAT6B) | XP_016871492.1:p.Gln1321ArgfsTer20 | |
| XM_017016004.2:c.3800_3801del (KAT6B) | XP_016871493.1:p.Gln1267ArgfsTer20 | |
| XM_017016005.2:c.3413_3414del (KAT6B) | XP_016871494.1:p.Gln1138ArgfsTer20 | |
| XM_017016006.2:c.3086_3087del (KAT6B) | XP_016871495.1:p.Gln1029ArgfsTer20 | |
| XM_017016008.2:c.3086_3087del (KAT6B) | XP_016871497.1:p.Gln1029ArgfsTer20 | |
| XM_017016009.1:c.2924_2925del (KAT6B) | XP_016871498.1:p.Gln975ArgfsTer20 | |
| NM_012330.4:c.3962_3963del (KAT6B) MANE Select | NP_036462.2:p.Gln1321ArgfsTer20 | |
| NM_001370132.1:c.2924_2925del (KAT6B) | NP_001357061.1:p.Gln975ArgfsTer20 | |
| NM_001370133.1:c.2273_2274del (KAT6B) | NP_001357062.1:p.Gln758ArgfsTer20 | |
| NM_001370134.1:c.1877_1878del (KAT6B) | NP_001357063.1:p.Gln626ArgfsTer20 | |
| NM_001370135.1:c.1619_1620del (KAT6B) | NP_001357064.1:p.Gln540ArgfsTer20 | |
| NM_001370136.1:c.3962_3963del (KAT6B) | NP_001357065.1:p.Gln1321ArgfsTer20 | |
| NM_001370137.1:c.3962_3963del (KAT6B) | NP_001357066.1:p.Gln1321ArgfsTer20 | |
| NM_001370138.1:c.3413_3414del (KAT6B) | NP_001357067.1:p.Gln1138ArgfsTer20 | |
| NM_001370139.1:c.3086_3087del (KAT6B) | NP_001357068.1:p.Gln1029ArgfsTer20 | |
| NM_001370140.1:c.3086_3087del (KAT6B) | NP_001357069.1:p.Gln1029ArgfsTer20 | |
| NM_001370141.1:c.3086_3087del (KAT6B) | NP_001357070.1:p.Gln1029ArgfsTer20 | |
| NM_001370142.1:c.3086_3087del (KAT6B) | NP_001357071.1:p.Gln1029ArgfsTer20 | |
| NM_001370143.1:c.2897_2898del (KAT6B) | NP_001357072.1:p.Gln966ArgfsTer20 | |
| NM_001370144.1:c.2897_2898del (KAT6B) | NP_001357073.1:p.Gln966ArgfsTer20 | |
| NM_001256468.2:c.3413_3414del (KAT6B) | NP_001243397.1:p.Gln1138ArgfsTer20 | |
| NM_001256469.2:c.3086_3087del (KAT6B) | NP_001243398.1:p.Gln1029ArgfsTer20 |