Canonical Allele Identifier: CA2580078481
Gene: KAT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 1928782
ClinVar RCV Id: RCV002614692

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933281_41933283dup , CM000670.2:g.41933281_41933283dup GRCh38
NC_000008.10:g.41790799_41790801dup , CM000670.1:g.41790799_41790801dup GRCh37
NC_000008.9:g.41909956_41909958dup NCBI36
NG_042093.1:g.123745_123747dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.4938_4940dup MANE Select ENSP00000265713.2:p.Asn1646_Gln1647insHis
ENST00000396930.4:c.4938_4940dup ENSP00000380136.3:p.Asn1646_Gln1647insHis
ENST00000406337.6:c.4944_4946dup ENSP00000385888.2:p.Asn1648_Gln1649insHis
ENST00000648335.1:c.4938_4940dup ENSP00000497086.1:p.Asn1646_Gln1647insHis
ENST00000649817.1:c.3619_3621dup
ENST00000265713.6:c.4938_4940dup ENSP00000265713.2:p.Asn1646_Gln1647insHis
ENST00000396930.3:c.4938_4940dup ENSP00000380136.3:p.Asn1646_Gln1647insHis
ENST00000406337.5:c.4938_4940dup ENSP00000385888.1:p.Asn1646_Gln1647insHis
NM_001099412.1:c.4938_4940dup NP_001092882.1:p.Asn1646_Gln1647insHis
NM_001099413.1:c.4938_4940dup NP_001092883.1:p.Asn1646_Gln1647insHis
NM_006766.3:c.4938_4940dup NP_006757.2:p.Asn1646_Gln1647insHis
NM_006766.4:c.4938_4940dup NP_006757.2:p.Asn1646_Gln1647insHis
XM_011544656.1:c.5070_5072dup XP_011542958.1:p.Asn1690_Gln1691insHis
XM_011544657.1:c.5070_5072dup XP_011542959.1:p.Asn1690_Gln1691insHis
XM_011544658.1:c.5070_5072dup XP_011542960.1:p.Asn1690_Gln1691insHis
XM_011544659.1:c.5049_5051dup XP_011542961.1:p.Asn1683_Gln1684insHis
XM_011544660.1:c.4956_4958dup XP_011542962.1:p.Asn1652_Gln1653insHis
XM_011544656.2:c.5070_5072dup XP_011542958.1:p.Asn1690_Gln1691insHis
XM_011544657.3:c.5070_5072dup XP_011542959.1:p.Asn1690_Gln1691insHis
XM_011544658.3:c.5070_5072dup XP_011542960.1:p.Asn1690_Gln1691insHis
XM_011544659.2:c.5049_5051dup XP_011542961.1:p.Asn1683_Gln1684insHis
XM_017013863.1:c.4938_4940dup XP_016869352.1:p.Asn1646_Gln1647insHis
XM_017013864.2:c.4938_4940dup XP_016869353.1:p.Asn1646_Gln1647insHis
XM_024447285.1:c.3510_3512dup XP_024303053.1:p.Asn1170_Gln1171insHis
NM_006766.5:c.4938_4940dup MANE Select NP_006757.2:p.Asn1646_Gln1647insHis