Canonical Allele Identifier: CA1779195804
Gene: KAT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933186_41933198delinsCTGCTGCTGGGGT , CM000670.2:g.41933186_41933198delinsCTGCTGCTGGGGT GRCh38
NC_000008.10:g.41790704_41790716delinsCTGCTGCTGGGGT , CM000670.1:g.41790704_41790716delinsCTGCTGCTGGGGT GRCh37
NC_000008.9:g.41909861_41909873delinsCTGCTGCTGGGGT NCBI36
NG_042093.1:g.123829_123841delinsACCCCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.5022_5034delinsACCCCAGCAGCAG MANE Select ENSP00000265713.2:p.Pro1674=
ENST00000396930.4:c.5022_5034delinsACCCCAGCAGCAG ENSP00000380136.3:p.Pro1674=
ENST00000406337.6:c.5028_5040delinsACCCCAGCAGCAG ENSP00000385888.2:p.Pro1676=
ENST00000649817.1:c.3703_3715delinsACCCCAGCAGCAG
ENST00000265713.6:c.5022_5034delinsACCCCAGCAGCAG ENSP00000265713.2:p.Pro1674=
ENST00000396930.3:c.5022_5034delinsACCCCAGCAGCAG ENSP00000380136.3:p.Pro1674=
ENST00000406337.5:c.5022_5034delinsACCCCAGCAGCAG ENSP00000385888.1:p.Pro1674=
NM_001099412.1:c.5022_5034delinsACCCCAGCAGCAG NP_001092882.1:p.Pro1674=
NM_001099413.1:c.5022_5034delinsACCCCAGCAGCAG NP_001092883.1:p.Pro1674=
NM_006766.3:c.5022_5034delinsACCCCAGCAGCAG NP_006757.2:p.Pro1674=
NM_006766.4:c.5022_5034delinsACCCCAGCAGCAG NP_006757.2:p.Pro1674=
XM_011544656.1:c.5154_5166delinsACCCCAGCAGCAG XP_011542958.1:p.Pro1718=
XM_011544657.1:c.5154_5166delinsACCCCAGCAGCAG XP_011542959.1:p.Pro1718=
XM_011544658.1:c.5154_5166delinsACCCCAGCAGCAG XP_011542960.1:p.Pro1718=
XM_011544659.1:c.5133_5145delinsACCCCAGCAGCAG XP_011542961.1:p.Pro1711=
XM_011544660.1:c.5040_5052delinsACCCCAGCAGCAG XP_011542962.1:p.Pro1680=
XM_011544656.2:c.5154_5166delinsACCCCAGCAGCAG XP_011542958.1:p.Pro1718=
XM_011544657.3:c.5154_5166delinsACCCCAGCAGCAG XP_011542959.1:p.Pro1718=
XM_011544658.3:c.5154_5166delinsACCCCAGCAGCAG XP_011542960.1:p.Pro1718=
XM_011544659.2:c.5133_5145delinsACCCCAGCAGCAG XP_011542961.1:p.Pro1711=
XM_017013863.1:c.5022_5034delinsACCCCAGCAGCAG XP_016869352.1:p.Pro1674=
XM_017013864.2:c.5022_5034delinsACCCCAGCAGCAG XP_016869353.1:p.Pro1674=
XM_024447285.1:c.3594_3606delinsACCCCAGCAGCAG XP_024303053.1:p.Pro1198=
NM_006766.5:c.5022_5034delinsACCCCAGCAGCAG MANE Select NP_006757.2:p.Pro1674=