Canonical Allele Identifier: CA2687076925

Gene: KAT6A

Linked Data

• gnomAD v4: 8-41933118-GGGGGCTGCTGCTGGGGAGGGGGTGGGGGTGGAGGCTGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933126_41933164del , CM000670.2:g.41933126_41933164del	GRCh38
NC_000008.10:g.41790644_41790682del , CM000670.1:g.41790644_41790682del	GRCh37
NC_000008.9:g.41909801_41909839del	NCBI36
NG_042093.1:g.123870_123908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5063_5101del MANE Select	ENSP00000265713.2:p.Gln1688_Pro1700del
ENST00000396930.4:c.5063_5101del	ENSP00000380136.3:p.Gln1688_Pro1700del
ENST00000406337.6:c.5069_5107del	ENSP00000385888.2:p.Gln1690_Pro1702del
ENST00000649817.1:c.3744_3782del
ENST00000265713.6:c.5063_5101del	ENSP00000265713.2:p.Gln1688_Pro1700del
ENST00000396930.3:c.5063_5101del	ENSP00000380136.3:p.Gln1688_Pro1700del
ENST00000406337.5:c.5063_5101del	ENSP00000385888.1:p.Gln1688_Pro1700del
NM_001099412.1:c.5063_5101del	NP_001092882.1:p.Gln1688_Pro1700del
NM_001099413.1:c.5063_5101del	NP_001092883.1:p.Gln1688_Pro1700del
NM_006766.3:c.5063_5101del	NP_006757.2:p.Gln1688_Pro1700del
NM_006766.4:c.5063_5101del	NP_006757.2:p.Gln1688_Pro1700del
XM_011544656.1:c.5195_5233del	XP_011542958.1:p.Gln1732_Pro1744del
XM_011544657.1:c.5195_5233del	XP_011542959.1:p.Gln1732_Pro1744del
XM_011544658.1:c.5195_5233del	XP_011542960.1:p.Gln1732_Pro1744del
XM_011544659.1:c.5174_5212del	XP_011542961.1:p.Gln1725_Pro1737del
XM_011544660.1:c.5081_5119del	XP_011542962.1:p.Gln1694_Pro1706del
XM_011544656.2:c.5195_5233del	XP_011542958.1:p.Gln1732_Pro1744del
XM_011544657.3:c.5195_5233del	XP_011542959.1:p.Gln1732_Pro1744del
XM_011544658.3:c.5195_5233del	XP_011542960.1:p.Gln1732_Pro1744del
XM_011544659.2:c.5174_5212del	XP_011542961.1:p.Gln1725_Pro1737del
XM_017013863.1:c.5063_5101del	XP_016869352.1:p.Gln1688_Pro1700del
XM_017013864.2:c.5063_5101del	XP_016869353.1:p.Gln1688_Pro1700del
XM_024447285.1:c.3635_3673del	XP_024303053.1:p.Gln1212_Pro1224del
NM_006766.5:c.5063_5101del MANE Select	NP_006757.2:p.Gln1688_Pro1700del