Linked Data
ClinVar Variation Id:
50356
ClinVar RCV Id:
RCV000043511
dbSNP Id:
rs387907364
MyVariant Identifiers:
chr10:g.76789646_76789653delinsCACA (hg19)
chr10:g.75029888_75029895delinsCACA (hg38)
PubMed:
PMID:23436491
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.75029888_75029895delinsCACA , CM000672.2:g.75029888_75029895delinsCACA | GRCh38 |
| NC_000010.10:g.76789646_76789653delinsCACA , CM000672.1:g.76789646_76789653delinsCACA | GRCh37 |
| NC_000010.9:g.76459652_76459659delinsCACA | NCBI36 |
| NG_032048.1:g.208476_208483delinsCACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287239.10:c.5064_5071delinsCACA (KAT6B) MANE Select | ENSP00000287239.4:p.Met1690GlufsTer24 | |
| ENST00000372711.2:c.4515_4522delinsCACA (KAT6B) | ENSP00000361796.1:p.Met1507GlufsTer24 | |
| ENST00000372714.6:c.4188_4195delinsCACA (KAT6B) | ENSP00000361799.1:p.Met1398GlufsTer24 | |
| ENST00000372724.6:c.4515_4522delinsCACA (KAT6B) | ENSP00000361809.2:p.Met1507GlufsTer24 | |
| ENST00000372725.6:c.4188_4195delinsCACA (KAT6B) | ENSP00000361810.1:p.Met1398GlufsTer24 | |
| ENST00000648725.1:c.5064_5071delinsCACA (KAT6B) | ENSP00000497841.1:p.Met1690GlufsTer24 | |
| ENST00000648892.1:c.4188_4195delinsCACA (KAT6B) | ENSP00000497048.1:p.Met1398GlufsTer24 | |
| ENST00000649006.1:c.4188_4195delinsCACA (KAT6B) | ENSP00000498139.1:p.Met1398GlufsTer24 | |
| ENST00000649463.1:c.5064_5071delinsCACA (KAT6B) | ENSP00000497166.1:p.Met1690GlufsTer24 | |
| ENST00000287239.8:c.5064_5071delinsCACA (KAT6B) | ENSP00000287239.4:p.Met1690GlufsTer24 | |
| ENST00000372711.1:c.4515_4522delinsCACA (KAT6B) | ENSP00000361796.1:p.Met1507GlufsTer24 | |
| ENST00000372714.5:c.4188_4195delinsCACA (KAT6B) | ENSP00000361799.1:p.Met1398GlufsTer24 | |
| ENST00000372724.5:c.4188_4195delinsCACA (KAT6B) | ENSP00000361809.1:p.Met1398GlufsTer24 | |
| ENST00000372725.5:c.4188_4195delinsCACA (KAT6B) | ENSP00000361810.1:p.Met1398GlufsTer24 | |
| NM_001256468.1:c.4515_4522delinsCACA (KAT6B) | NP_001243397.1:p.Met1507GlufsTer24 | |
| NM_001256469.1:c.4188_4195delinsCACA (KAT6B) | NP_001243398.1:p.Met1398GlufsTer24 | |
| NM_012330.3:c.5064_5071delinsCACA (KAT6B) | NP_036462.2:p.Met1690GlufsTer24 | |
| XM_005269664.2:c.5064_5071delinsCACA (KAT6B) | XP_005269721.1:p.Met1690GlufsTer24 | |
| XR_946064.1:n.577-3301_577-3294delinsTGTG | ||
| XM_011539747.2:c.*3622-3301_*3622-3294delinsTGTG (DUSP29) | XP_011538049.1:n.*3622-3301_*3622-3294del... | |
| XM_017016000.2:c.5064_5071delinsCACA (KAT6B) | XP_016871489.1:p.Met1690GlufsTer24 | |
| XM_017016002.1:c.5064_5071delinsCACA (KAT6B) | XP_016871491.1:p.Met1690GlufsTer24 | |
| XM_017016003.1:c.5064_5071delinsCACA (KAT6B) | XP_016871492.1:p.Met1690GlufsTer24 | |
| XM_017016004.2:c.4902_4909delinsCACA (KAT6B) | XP_016871493.1:p.Met1636GlufsTer24 | |
| XM_017016005.2:c.4515_4522delinsCACA (KAT6B) | XP_016871494.1:p.Met1507GlufsTer24 | |
| XM_017016006.2:c.4188_4195delinsCACA (KAT6B) | XP_016871495.1:p.Met1398GlufsTer24 | |
| XM_017016008.2:c.4188_4195delinsCACA (KAT6B) | XP_016871497.1:p.Met1398GlufsTer24 | |
| XM_017016009.1:c.4026_4033delinsCACA (KAT6B) | XP_016871498.1:p.Met1344GlufsTer24 | |
| NM_012330.4:c.5064_5071delinsCACA (KAT6B) MANE Select | NP_036462.2:p.Met1690GlufsTer24 | |
| NM_001370132.1:c.4026_4033delinsCACA (KAT6B) | NP_001357061.1:p.Met1344GlufsTer24 | |
| NM_001370133.1:c.3375_3382delinsCACA (KAT6B) | NP_001357062.1:p.Met1127GlufsTer24 | |
| NM_001370134.1:c.2979_2986delinsCACA (KAT6B) | NP_001357063.1:p.Met995GlufsTer24 | |
| NM_001370135.1:c.2721_2728delinsCACA (KAT6B) | NP_001357064.1:p.Met909GlufsTer24 | |
| NM_001370136.1:c.5064_5071delinsCACA (KAT6B) | NP_001357065.1:p.Met1690GlufsTer24 | |
| NM_001370137.1:c.5064_5071delinsCACA (KAT6B) | NP_001357066.1:p.Met1690GlufsTer24 | |
| NM_001370138.1:c.4515_4522delinsCACA (KAT6B) | NP_001357067.1:p.Met1507GlufsTer24 | |
| NM_001370139.1:c.4188_4195delinsCACA (KAT6B) | NP_001357068.1:p.Met1398GlufsTer24 | |
| NM_001370140.1:c.4188_4195delinsCACA (KAT6B) | NP_001357069.1:p.Met1398GlufsTer24 | |
| NM_001370141.1:c.4188_4195delinsCACA (KAT6B) | NP_001357070.1:p.Met1398GlufsTer24 | |
| NM_001370142.1:c.4188_4195delinsCACA (KAT6B) | NP_001357071.1:p.Met1398GlufsTer24 | |
| NM_001370143.1:c.3999_4006delinsCACA (KAT6B) | NP_001357072.1:p.Met1335GlufsTer24 | |
| NM_001370144.1:c.3999_4006delinsCACA (KAT6B) | NP_001357073.1:p.Met1335GlufsTer24 | |
| NM_001256468.2:c.4515_4522delinsCACA (KAT6B) | NP_001243397.1:p.Met1507GlufsTer24 | |
| NM_001256469.2:c.4188_4195delinsCACA (KAT6B) | NP_001243398.1:p.Met1398GlufsTer24 |