Canonical Allele Identifier: CA10632268
Community Standard Title: NM_012330.4(KAT6B):c.-424_-419dup
Gene: KAT6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74826690_74826695dup , CM000672.2:g.74826690_74826695dup GRCh38
NC_000010.10:g.76586448_76586453dup , CM000672.1:g.76586448_76586453dup GRCh37
NC_000010.9:g.76256454_76256459dup NCBI36
NG_032048.1:g.5278_5283dup

Transcript Alleles

HGVS Amino-acid Change
NM_012330.4:c.-424_-419dup MANE Select NP_036462.2:n.-424_-419dup
ENST00000287239.10:c.-424_-419dup MANE Select ENSP00000287239.4:n.-424_-419dup
NM_001256468.1:c.-424_-419dup NP_001243397.1:n.-424_-419dup
NM_001256468.2:c.-424_-419dup NP_001243397.1:n.-424_-419dup
NM_001256469.1:c.-424_-419dup NP_001243398.1:n.-424_-419dup
NM_001256469.2:c.-424_-419dup NP_001243398.1:n.-424_-419dup
NM_001370132.1:c.-424_-419dup NP_001357061.1:n.-424_-419dup
NM_001370133.1:c.-329+1016_-329+1021dup NP_001357062.1:n.-329+1016_-329+1021dup
NM_001370134.1:c.-867+1016_-867+1021dup NP_001357063.1:n.-867+1016_-867+1021dup
NM_001370135.1:c.-962_-957dup NP_001357064.1:n.-962_-957dup
NM_001370136.1:c.-329+1016_-329+1021dup NP_001357065.1:n.-329+1016_-329+1021dup
NM_001370137.1:c.-455_-450dup NP_001357066.1:n.-455_-450dup
NM_001370138.1:c.-329+1016_-329+1021dup NP_001357067.1:n.-329+1016_-329+1021dup
NM_001370139.1:c.-360+1334_-360+1339dup NP_001357068.1:n.-360+1334_-360+1339dup
NM_001370140.1:c.-329+1016_-329+1021dup NP_001357069.1:n.-329+1016_-329+1021dup
NM_001370141.1:c.-259+1016_-259+1021dup NP_001357070.1:n.-259+1016_-259+1021dup
NM_001370142.1:c.-354_-349dup NP_001357071.1:n.-354_-349dup
NM_001370143.1:c.-259+1016_-259+1021dup NP_001357072.1:n.-259+1016_-259+1021dup
NM_001370144.1:c.-424_-419dup NP_001357073.1:n.-424_-419dup
NM_012330.3:c.-424_-419dup NP_036462.2:n.-424_-419dup
ENST00000287239.8:c.-424_-419dup ENSP00000287239.4:n.-424_-419dup
ENST00000372714.5:c.-354_-349dup ENSP00000361799.1:n.-354_-349dup
ENST00000372714.6:c.-354_-349dup ENSP00000361799.1:n.-354_-349dup
ENST00000372724.5:c.-424_-419dup ENSP00000361809.1:n.-424_-419dup
ENST00000372724.6:c.-424_-419dup ENSP00000361809.2:n.-424_-419dup
ENST00000372725.5:c.-259+1016_-259+1021dup ENSP00000361810.1:n.-259+1016_-259+1021dup
ENST00000372725.6:c.-259+1016_-259+1021dup ENSP00000361810.1:n.-259+1016_-259+1021dup
ENST00000647666.1:c.-424_-419dup ENSP00000497307.1:n.-424_-419dup
ENST00000647890.1:c.-329+221_-329+226dup ENSP00000497951.1:n.-329+221_-329+226dup
ENST00000648048.1:c.-455_-450dup ENSP00000497325.1:n.-455_-450dup
ENST00000648159.1:c.-360+1334_-360+1339dup ENSP00000497197.1:n.-360+1334_-360+1339dup
ENST00000648370.1:c.-329+1016_-329+1021dup ENSP00000497804.1:n.-329+1016_-329+1021dup
ENST00000648483.1:c.-329+1016_-329+1021dup ENSP00000498153.1:n.-329+1016_-329+1021dup
ENST00000648539.1:c.-354_-349dup ENSP00000497859.1:n.-354_-349dup
ENST00000648725.1:c.-329+1334_-329+1339dup ENSP00000497841.1:n.-329+1334_-329+1339dup
ENST00000648828.1:c.-329+1330_-329+1335dup ENSP00000497504.1:n.-329+1330_-329+1335dup
ENST00000648892.1:c.-424_-419dup ENSP00000497048.1:n.-424_-419dup
ENST00000648899.1:c.-329+1016_-329+1021dup ENSP00000497198.1:n.-329+1016_-329+1021dup
ENST00000649006.1:c.-259+1155_-259+1160dup ENSP00000498139.1:n.-259+1155_-259+1160dup
ENST00000649119.1:c.-329+924_-329+929dup ENSP00000498103.1:n.-329+924_-329+929dup
ENST00000649375.1:c.-354_-349dup ENSP00000498141.1:n.-354_-349dup
ENST00000649442.1:c.-424_-419dup ENSP00000498102.1:n.-424_-419dup
ENST00000649463.1:c.-329+1016_-329+1021dup ENSP00000497166.1:n.-329+1016_-329+1021dup
ENST00000649657.1:c.-424_-419dup ENSP00000497491.1:n.-424_-419dup
ENST00000650232.1:c.-259+1016_-259+1021dup ENSP00000497570.1:n.-259+1016_-259+1021dup
ENST00000650330.1:n.63_68dup
ENST00000650380.1:n.56_61dup
ENST00000650434.1:c.-259+1016_-259+1021dup ENSP00000496881.1:n.-259+1016_-259+1021dup
XM_005269664.2:c.-329+1330_-329+1335dup XP_005269721.1:n.-329+1330_-329+1335dup
XM_017016000.2:c.-329+1016_-329+1021dup XP_016871489.1:n.-329+1016_-329+1021dup
XM_017016002.1:c.-455_-450dup XP_016871491.1:n.-455_-450dup
XM_017016003.1:c.-259+1016_-259+1021dup XP_016871492.1:n.-259+1016_-259+1021dup
XM_017016004.2:c.-329+1016_-329+1021dup XP_016871493.1:n.-329+1016_-329+1021dup
XM_017016005.2:c.-329+1016_-329+1021dup XP_016871494.1:n.-329+1016_-329+1021dup
XM_017016006.2:c.-329+1016_-329+1021dup XP_016871495.1:n.-329+1016_-329+1021dup
XM_017016008.2:c.-259+1016_-259+1021dup XP_016871497.1:n.-259+1016_-259+1021dup
XM_017016009.1:c.-424_-419dup XP_016871498.1:n.-424_-419dup